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Diseases » Metabolic disorders » Glossary
 

Glossary for Metabolic disorders

  • 17-20 desmolase deficiency: A form of congenital adrenal hyperplasia where a deficiency of 17-20-desmolase results males having ambiguous or female external genitalia due to impaired sex steroid production.
  • 17-Beta-hydroxysteroid dehydrogenase III deficiency: A rare disorder characterized caused by an enzyme (17-ketosteroid reductase) defect only in the testes which results in a lack of testosterone which is needed during the fetal stage to give males there physical characteristics.
  • 18-Hydroxylase deficiency: A rare genetic, metabolic defect where a deficiency of the enzyme 18-Hydroxylase which results in a reduced amount of aldosterone and salt wasting.
  • 2-Hydroxyglutaricaciduria: A rare metabolic disorder characterized by high levels of a certain chemical (2-Hydroxyglutaric) which causes a serious progressive neurological disease and damage to the brain. The features of this disorder are variable and some cases are milder than others.
  • 2-Methylbutyric Aciduria: A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbutyryl-coenzyme A dehydrogenase) needed to convert the amino acid isoleucine into energy. 2-methylbutyrylglycine levels build up in the body and may cause damage. Symptoms vary according to the degree of enzyme deficiency - can range from asymptomatic to life-threatening.
  • 2-methylbutyryl-coenzyme A dehydrogenase deficiency: A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbutyryl-coenzyme A dehydrogenase) needed to convert the amino acid isoleucine into energy. 2-methylbutyrylglycine levels build up in the body and may cause damage. Symptoms vary according to the degree of enzyme deficiency - can range from asymptomatic to life-threatening.
  • 2-methylglutaconic aciduria type 3:
  • 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency: A rare inherited disorder where lack of a certain enzyme (3-methylcrotonyl-Coa carboxylase) stops proteins with the amino acid leucine being metabolized normally by the body. The leucine builds up in the body and causes damage to the brain and nervous system. The severity of the condition is variable with some cases being mild enough to be asymptomatic. The condition differs from type 2 in that it originates as a defect in a different gene (MCC1 gene) but it causes the same enzyme deficiency.
  • 3 alpha methylcrotonyl-coa carboxylase 2 deficiency: A rare inherited disorder where lack of a certain enzyme (3-methylcrotonyl-Coa carboxylase) stops proteins with the amino acid leucine being metabolized normally by the body. The leucine builds up in the body and causes damage to the brain and nervous system. The severity of the condition is variable with some cases being mild enough to be asymptomatic. The condition differs from type 1 in that it originates as a defect in a different gene (MCC2 gene) but it causes the same enzyme deficiency.
  • 3 alpha methylglutaconicaciduria, type 3: A rare genetic condition where a gene mutation prevents the production of certain protein which leads to a build-up of an acid (3-methylglutaconic acid) which can have a negative impact on the body. The condition is characterized mainly by damage to the optic nerve.
  • 3-Beta-HSD, Deficiency of: A rare condition where the deficiency of a particular enzyme (3-Beta-Hydroxysteroid Dehydrogenase) results in reduced levels of adrenal hormones - mineralocorticoids, glucocorticoids and sex steroids. The condition results in variable degrees of salt wasting and abnormal sexual organ development depending on the level of deficiency.
  • 3-Beta-Hydroxysteroid Dehydrogenase deficiency: A rare condition where the deficiency of a particular enzyme (3-Beta-Hydroxysteroid Dehydrogenase) results in reduced levels of adrenal hormones - mineralocorticoids, glucocorticoids and sex steroids. The condition results in variable degrees of salt wasting and abnormal sexual organ development depending on the level of deficiency.
  • 3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency of: A rare condition where the deficiency of a particular enzyme (3-Beta-Hydroxysteroid Dehydrogenase) results in reduced levels of adrenal hormones - mineralocorticoids, glucocorticoids and sex steroids. The condition results in variable degrees of salt wasting and abnormal sexual organ development depending on the level of deficiency.
  • 3-Hydroxyacyl-CoA Dehydrogenase II Deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
  • 3-Hydroxyisobutyric aciduria: A rare inborn metabolic disorder which causes brain and facial anomalies, seizures and growth problems.
  • 3-alpha-Hydroxyacyl-CoA Dehydrogenase Deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • 3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • 3-alpha-hydroxyisobutyryl-CoA hydrolase deficiency: A metabolic disorder involving an enzyme deficiency which causes symptoms such as degeneration of the nervous system. The other features of the disorder are somewhat variable.
  • 3-methylcrotonyl-CoA carboxylase deficiency: A rare inherited disorder where lack of a certain enzyme (3-methylcrotonyl-Coa carboxylase) stops proteins with the amino acid leucine being metabolized normally by the body. The leucine builds up in the body and causes damage to the brain and nervous system. The severity of the condition is variable with some cases being mild enough to be asymptomatic.
  • 3-methylglutaconic aciduria, type 1: A recessively inherited metabolic disorder characterized by methylglutaconic acid in the urine.
  • 3-methylglutaconic aciduria, type 4: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 4 is characterized by symptoms which overlap type 1 and 3.
  • 3-methylglutaconic aciduria, type V: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid.
  • 3?-hydroxysteroid dehydrogenase deficiency: A ver rare form of congenital adrenal hyperplasia involving a deficiency of 3?-hydroxysteroid dehydrogenase which results in reduced production of adrenal steroids (mineralocorticoids, sex steroids and glucocorticoids). The disorder can occur in classical, non-salt wasting and late-onset varieties.
  • 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency: A very rare metabolic disorder where a deficiency of a particular enzyme results in the urinary excretion of a chemical called hawkinsin. Symptoms start once the infant is weaned off breast milk.
  • 4-hydroxyphenylacetic aciduria: A urinary abnormality usually caused by the deficiency of a particular enzyme (4-hydroxyphenylpyruvic acid oxidase). The urine contains excess 4-hydroxyphenylacetic acid.
  • 5-alpha-Oxoprolinase deficiency: An inborn error of metabolism where there is insufficient 5-oxoprolinase which generally produces few if any symptoms.
  • 6-pyruvoyl-tetrahydropterin synthase deficiency: A rare genetic disorder where insufficient levels of tetrahydropterin leads to a build up of phenylalanine in the blood which can cause toxic side effects such as nerve damage or even brain damage. The condition does not usually cause any significant symptoms.
  • A ?-protein amyloidosis: Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage. This particular form involves deposits of ?-proteins in the nerves resulting in Alzheimer's disease or around brain blood vessels which can cause strokes or brain bleeds.
  • ACAD8 deficiency: An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and severity of symptoms is variable.
  • ACAD9 deficiency: A metabolic disorder involving a deficiency of an enzyme (acyl-CoA dehydrogenase-9). The symptoms are variable and are usually triggered by a viral infection or ingestion of aspirin which can trigger a Reye-like episode which can cause death.
  • ACTH resistance: A rare inherited genetic disorder characterized by adrenal insufficiency due to the adrenal gland's inability to respond to ACTH and hence produce the hormone called cortisol.
  • ADP platelet receptor P2Y12, deficiency of: Deficiency of a compound (P2Y12) involved in the blood clotting process which results in bleeding problems.
  • Abdominal obesity metabolic syndrome: A syndrome characterized by a group of conditions that are considered major risk factors for diabetes mellitus and cardiovascular disease.
  • Abetalipoproteinemia: A rare disorder involving abnormalities in fat metabolism. The resulting insufficiency of fats and vitamins affect the normal development and function of the body.
  • Absorptive hypercalciuria syndrome: A rare disorder involving the excessive absorption of calcium by the intestines which increases the body's calcium levels and inhibits the functioning of the parathyroid gland.
  • Acatalasemia: A rare inherited disorder involving a lack of erythrocyte catalase activity which affects lipid metabolism. The defect can manifest as one of two variants: Japanese variant (Takahara disease) or the Swiss variant which is asymptomatic.
  • Aceruloplasminemia: A rare, recessively inherited neurodegenerative disorder characterized by a lack of ceruloplasmin in the blood. The lack of ceruloplasmin results in abnormal iron use in the body and leads to iron deposits in various body tissues such as the brain, pancreas and liver. The iron overload results a neurodegeneration (ataxia, dementia and extrapyramidal disorders) and diabetes. Patients with only a partial absence of ceruloplasmin are often asymptomatic.
  • Acetyl-coa acetyltransferase 2 deficiency: A rare disorder where a genetic anomaly results in a deficiency of a particular enzyme (Acetyl-coa acetyltransferase 2) which is associated with mental retardation and reduced muscle tone. The enzyme is involved in lipid metabolism
  • Achalasia -- Addisonianism -- Alacrimia syndrome: A rare inherited disorder characterized mainly by achalasia, alacrimia (absent tears) and Addison's disease. Addison's disease involves adrenal insufficiency due to a resistance to adrenocorticotropic hormone. Only about 70 cases reported worldwide.
  • Achalasia -- addisonianism -- alacrima syndrome: A rare inherited disorder characterized mainly by achalasia, alacrimia (absent tears) and Addison's disease. Addison's disease involves adrenal insufficiency due to a resistance to adrenocorticotropic hormone. Only about 70 cases reported worldwide.
  • Acid phosphatase deficiency: A group of inherited metabolic bone disorders varying in degree of severity and characterized a deficiency of alkaline phosphate which affects bone mineralization.
  • Acid phosphatase elevation: It is a type of enzyme, used to free attached phosphate groups from other molecules during digestion.Different forms of acid phosphatase are found in different organs, and their serum levels are used as a diagnostic for disease in the corresponding organs.
  • Acid reflux / heartburn:
  • Acidemia, isovaleric: A rare genetic condition where the body can't process proteins adequately. More specifically, there are insufficient levels of the enzyme needed to break down an amino acid called leucine. This results in a build up of isovaleric acid which can harm the brain and nervous system. Some people suffer severe symptoms from birth and others suffer milder symptoms that come and go and are affected by such things as infections or consumption of high protein food.
  • Acidemia, methylmalonic: An inborn error of metabolism where amino acids in the body aren't metabolized properly resulting in high levels of the acid throughout the body.
  • Acidemia, propionic: An inherited genetic disorder where the body is incapable of processing some proteins and fats resulting in the accumulation of certain substances in the body which causes the symptoms of the condition. The condition can be life threatening.
  • Aconitase deficiency: A rare disorder where deficiency of an enzyme called aconitase results in muscle disease and intolerance to exercise.
  • Acquired generalized lipodystrophy: A rare disorder characterized by the loss of body fat. The acquired form usually occurs as a result of conditions such as fatty liver, infections or metabolic abnormalities such as insulin resistance and diabetes mellitus. The loss of fat involves the whole body and occurs at variable rates.
  • Acquired total lipodystrophy: A rare acquired disorder that involves adipose tissue abnormalities and is characterized by loss of adipose tissue through the body. The disorder is very similar to the congenital form but the liver involvement is more severe.
  • Acute fatty liver of pregnancy: A rare complication of pregnancy that can occur in the second half of the pregnancy. It is characterized by excessive fatty deposits in the liver which can be fatal without prompt diagnosis and treatment which involves delivering the baby as soon as possible.
  • Acute intermittent porphyria: A rare metabolic disorder characterized by a deficiency in the porphobilinogen deaminase enzyme which results in a build-up of porphyrins or its precursors in the body. Using certain drugs or eating certain foods can trigger the symptoms of the condition.
  • Acyl-CoA dehydrogenase, short chain, deficiency of: A rare disorder where the body lacks enzymes needed to convert some fats (short-chain fatty acids) into energy. Symptoms are exacerbated by fasting or acute illness. The severity of symptoms is variable with some patients remaining virtually asymptomatic their whole life while other suffer symptoms from infancy.
  • Acyl-CoA dehydrogenase, very long chain, deficiency of: A rare inherited genetic condition where the body is unable to convert certain fats to energy i.e. there is not enough of a certain enzyme which is needed to metabolize a type of fat called long-chain fatty acids. The build-up of these fatty acids in the body causes damage. There are three subtypes of the disorder each with varying severity: severe early-onset form, an intermediate form and an adult-onset form.
  • Adams Nance syndrome: A rare genetic disorder characterized by rapid heartbeat, high blood pressure, small eyes and the presence of excess glycine in the urine.
  • Adenine phosphoribosyltransferase deficiency: A rare genetic disorder where an enzyme (2, 8-dihydroxyadenine) deficiency results in urinary tract stone formation.
  • Adenosine deaminase deficiency: A rare disorder where a deficiency in the activity of adenosine deaminase causes severe immunodeficiency which in turn results in frequent severe bacterial, viral and fungal infections.
  • Adenosine monophosphate deaminase deficiency: A rare metabolic disorder characterized by a deficiency of adenosine monophosphate deaminase which affects muscle energy production. The condition is usually asymptomatic but some people suffer from muscle pain, cramps and fatigue following exercise.
  • Adenosine triphosphatase deficiency, anemia due to: A rare metabolic disorder where anemia is caused by a deficiency of the enzyme called adenosine triphosphatase.
  • Adenylosuccinate lyase deficiency: A rare inherited disorder characterized by a deficiency of the enzyme called adenlyosuccinate lyase which generally results in psychomotor retardation and autistic behavior.
  • Adiposis Dolorosa: A condition which mainly affects women and causes painful fatty swellings
  • Adrenal Hyperplasia, Congenital (General): Congenital adrenal hyperplasia is an inherited condition characterized by adrenal insufficiency. It is caused by a deficiency in an enzyme needed to produce certain adrenal hormones such as cortisol and aldosterone.
  • Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency: A rare form of congenital adrenal hyperplasia characterized by a deficiency of 11-Beta-hydroxylase which results in excess androgen production and hypertension. The disorder can occur in virilizing, hypertensive and salt-wasting forms and symptoms may range from mild to severe.
  • Adrenoleukodystrophy: A rare disorder which has characteristic symptoms of Addison disease (adrenocortical insufficiency) and Schilder disease (cerebral sclerosis). Bronze skin, brain sclerosis and demyelination are the main symptoms.
  • Adrenoleukodystrophy, autosomal, neonatal form: A rare inherited disorder involving the adrenal glands, testes and certain parts of the brain (white matter). It is a less severe form of leukodystrophy where an abnormality within the body cells prevents the metabolism of certain fats (long chain fatty acids).
  • Adult Polyglucosan Body Disease: A condition which is a glycogen storage disease causing hepatosplenomegaly and failure to thrive
  • Adult hypophosphatasia: An rare inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate. The condition involves the early loss of primary teeth and childhood rickets followed by a reasonable health until mid-adulthood when dental and skeletal abnormalities again become prevalent.
  • Adult-onset ALD: Form of ALD in adults.
  • Aguecheek disease: Patients with liver disease who develop symptoms of dementia after eating lots of protein (meat has a high protein level) due to an intolerance to the nitrogenous compounds in the protein.
  • Albers-Schonberg disease -- Adult benign dominant form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The adult benign form is associated with a normal life expectancy and is often asymptomatic.
  • Albers-Schonberg disease -- intermediate form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The intermediate form is more severe than the adult form but less severe than the infantile form. Life expectancy is usually normal.
  • Albers-Schonberg disease -- malignant recessive form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The malignant infantile form is the most severe form of this disorder and death usually occurs in the first decade of life.
  • Albinism: A rare inherited condition characterized by a lack of pigmentation in the hair, skin and/or eyes.
  • Aldolase A deficiency: A rare condition where a deficiency of the enzyme called aldolase A causes muscle problems and anemia.
  • Alkaline phosphatase elevation: Alkaline phosphatase is present in all tissues throughout the entire body, but is particularly concentrated in liver, bile duct, kidney, bone, and the placenta. The normal range is 39-120. High ALP levels can show that the bile ducts are blocked. Levels are significantly higher in children and pregnant women.
  • Alkaptonuria: A rare disorder where the abnormal accumulation of a particular acid (homogentisic acid) in the body causes connective tissue and bone damage. This damage gives tissues a dark or bluish discoloration.
  • Allison atrophy: Wasting and loss of minerals in bones that are not used for periods of time. Astronauts have to ensure they do adequate exercise to prevent this condition.
  • Alpha 1-Antitrypsin Deficiency: A rare disorder characterized by the development of lung disease in adults and liver disease in adults and children.
  • Alpha-Mannosidosis: A rare condition which is characterized by a lysosomal storage defect.
  • Alpha-N-acetylgalactosaminidase deficiency, Type II: A very rare inherited metabolic disorder where deficiency of an enzyme (alpha-N-acetylgalactosaminidase) causes glycoplids to accumulate in body tissues and result in various symptoms. Type 2 occurs during the second or third decade of life and is milder than type I and doesn't involve neurological degeneration.
  • Alpha-N-acetylgalactosaminidase deficiency, Type III: A very rare enzyme deficiency (N-acetyl-alpha-D-galactosaminidase) which can occur in three forms: type I (infantile-onset neuroaxonal dystrophy), type II or Kanzaki disease (adult-onset) and type III (mild or moderate form).
  • Alpha-ketoglutarate dehydrogenase deficiency: A metabolic disorder characterized by a deficiency of Alpha-ketoglutarate dehydrogenase which results in high levels of oxoglutaric acid in the urine as well as other severe symptoms.
  • Alpha-mannosidosis type II: A rare inherited metabolic disorder involving a deficiency of an enzyme (alpha-mannosidosase) which results in the accumulation of certain chemicals in the body which leads to progressive damage. This form of the condition is less severe than type I (infantile form).
  • Alpha-mannosidosis, adult-onset form:
  • Alzheimer disease, early-onset, with cerebral amyloid angiopathy: An early-onset form of Alzheimer's disease that is linked to a defect on chromosome 21q21. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Aminoacidopathies: Any of a group of inborn errors of metabolism which results in the build up in the body of one or more amino acids in the blood and/or urine. The range and severity of symptoms is hugely variable.
  • Aminoacylase 1 deficiency: A rare genetic disorder caused by an enzyme (aminoacylase-1) deficiency. There is still uncertainty whether the deficiency actually causes any of the symptoms observed in patients.
  • Amyloid Neuropathies: A peripheral nerve disorder caused by abnormal amyloid deposits in the nerves. Sensory, autonomic or motor nerves may be affected. The degree of nerve involvement, and hence symptoms, are variable.
  • Amyloid angiopathy: A blood vessel disorder caused by abnormal amyloid deposits in the blood vessel walls of the brain. The deposits can cause the blood vessel to become weak and rupture resulting in intracranial bleeding. Despite the potentially serious consequences the disorder is often asymptomatic until old age.
  • Amyloid cardiopathy: Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage and is potentially fatal. The cardiac form involves deposits of amyloid in the heart muscle which affects its function. The electrical conduction system of the heart is impaired.
  • Amyloid cardiopathy, familial: Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage and is potentially fatal. The familial cardiac form is inherited and involves deposits of amyloid in the heart muscle which affects its function. The electrical conduction system of the heart is impaired.
  • Amyloidosis: A rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage and is potentially fatal. Symptoms depend on the organs involved. There are numerous forms of the condition: primary amyloidosis, secondary amyloidosis, hemodialysis-associated amyloidosis and familial amyloidosis.
  • Amyloidosis AL: A disease involving the abnormal deposit of amyloid fibrils in virtually any part of the body - the heart, liver, kidney and peripheral and autonomic nerves are most commonly affected. The abnormal amyloid fibrils are produced abnormal plasma cells in the bone marrow. In some cases, the excess growth of abnormal plasma cells can result in a cancerous condition called myeloma resulting in bone pain and infections. A patient with myeloma may develop amyloidosis but it is rare for a patient with AL amyloidosis to go on to develop myeloma.
  • Amyloidosis IX: A rare disorder where a substance called amyloid is deposited in the skin resulting in itchy, discolored bumps or nodules in the skin. No other body organs are involved.
  • Amyloidosis VI: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In the Icelandic type, the amyloid deposits affect the brain blood vessels and cause hemorrhages.
  • Amyloidosis VII: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In the Ohio type, the amyloid deposits in the leptomeningeal blood vessels, brainstem, spinal cord and eye causing central nervous system dysfunction, brain hemorrhages as well as vision impairment.
  • Amyloidosis beta2-microglobulinic: Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage. The type of amyloid protein involved in this type of amyloidosis is beta-2-microglobulin. The abnormal protein tends to be deposited in parts of the body such as joints, bones and carpal tunnel but can also be found in the gastrointestinal tract and other organs.
  • Amyloidosis of gingiva and conjunctiva mental retardation: A rare disorder characterized by mental retardation and abnormal amyloid deposits in the gums and conjunctiva of the eye.
  • Amyloidosis, Cutaneous bullous: A rare disorder where a substance called amyloid is deposited mainly around the joints which results in blistering.
  • Amyloidosis, Familial: Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage. In the familial form, the type of amyloid involved is usually a plasma protein called transthyretin. The main parts of the body affected are the nerves, heart and kidneys.
  • Amyloidosis, Inherited: Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage. In the inherited form, the type of amyloid involved is usually a plasma protein called transthyretin. The main parts of the body affected are the nerves, heart and kidneys.
  • Amyloidosis, cerebroarterial, hereditary, Iowa type: An inherited form of amyloidosis caused by a defect in the APP gene on chromosome 21q21. Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In this form, the deposits affect the brain arteries.
  • Amyloidosis, cerebroarterial, hereditary, Italian type: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In the Italian type, the amyloid deposits affect the brain blood vessels and cause hemorrhages.
  • Amyloidosis, familial cutaneous: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. The familial cutaneous form is characterized by brown skin pigmentation as well as systemic symptoms such as failure to thrive, developmental delay, gastrointestinal problems and pneumonia.
  • Amyloidosis, familial visceral: A rare genetic disorder involving widespread amyloidosis (abnormal buildup of amyloid protein in tissues) which tends the affect the kidneys severely.
  • Amyloidosis, inflammatory: Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage and is potentially fatal. Symptoms depend on the organs involved. Secondary amyloidosis is caused by a chronic infection of inflammatory conditions such as rheumatoid arthritis, multiple myeloma, tuberculosis and osteomyelitis. The main organs affected in secondary amyloidosis are usually the kidneys, liver, spleen and lymph nodes. The peripheral and autonomic nerves and the heart are rarely affected.
  • Amyloidosis, oculoleptomeningeal: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In this particular type, the amyloid deposits in the leptomeningeal blood vessels, brainstem, spinal cord and eye causing central nervous system dysfunction, brain hemorrhages and vision impairment.
  • Andersen disease: An rare inborn error of metabolism involving glycogen storage and characterized by cirrhosis and sometimes liver failure. Lack of the amyl-transglucosidase enzyme and abnormal glycogen causes the condition.
  • Andrade's syndrome: An inherited condition characterized by deposits of an abnormal protein called amyloid in various parts of the body including organs. The condition mainly involves neurological symptoms.
  • Anemic -- hematuria syndrome: An epidemic disease in Argentina which has a prolonged recovery time but usually there are no complications. Symptoms vary between seasons so that affected patients suffer anorexia, vomiting, diarrhea and dehydration in summer but suffer reduced urination, excess blood, albumin and renal casts in the urine. Other symptoms occur irrespective of the season.
  • Antigen-peptide-transporter 2 deficiency: A rare inherited disorder where an immunological defect increases a persons risk of vasculitis and bronchopneumopathy.
  • Antigen-peptide-transporter deficiency: A rare inherited disorder where an immunological defect increases a persons risk of vasculitis and bronchopneumopathy.
  • Antisynthetase syndrome: A rare autoimmune disease that affects the muscles. It involves the development of antibodies to an enzyme (aminoacyl-tRNA synthetase) which is involved in making proteins.
  • Apo A-I deficiency: Low plasma HDL cholesterol that tends to run in families.
  • Apolipoprotein C 2I deficiency: A rare inherited condition where a deficiency of apolipoprotein C-II impairs lipoprotein metabolism and results in a build up of chylomicrons and VLDL.
  • Arachnodactyly -- ataxia -- cataract -- aminoaciduria -- mental retardation: A rare syndrome characterized mainly by congenital cataracts, ataxia, mental retardation, abnormal amino acid metabolism and long, thin fingers.
  • Arakawa syndrome 1: An inherited metabolic disorder where an enzyme deficiency (glutamate formiminotrransferase) causes mental and physical retardation and degeneration of brain tissue.
  • Arakawa's syndrome 2: An inherited metabolic disorder where an enzyme deficiency (methionine synthase) causes mental and physical retardation, blood disorders, degeneration of brain tissue and various other symptoms.
  • Arena synddrome:
  • Arena syndrome: A rare disorder characterized by mental retardation, spastic paraplegia and iron deposits in part of the brain that controls movement (basal ganglia).
  • Arginase deficiency: A very rare urea cycle disorder caused by a deficiency of the enzyme (arginase) needed to convert ammonia to the urea which can then be removed in the urine. The condition leads to excess build-up of ammonia in the body which is toxic to the nervous system.
  • Arginine-glycine amidinotransferase deficiency: A rare enzyme deficiency which manifests as mental retardation, developmental delay and speech problemss
  • Argininosuccinase lyase deficiency, late onset: A rare inherited urea cycle disorder caused by lack of enzymes (argininosuccinase lyase) needed to turn ammonia into urea resulting in excess ammonia in the body. The late onset form of the condition tends to start later in life as there is some level of activity by the defective enzyme. The condition tends to be less severe and can be triggered by a change in diet, illness or some other stress on the body.
  • Argininosuccinase lyase deficiency, neonatal: A rare inherited urea cycle disorder caused by lack of enzymes (argininosuccinase lyase) needed to turn ammonia into urea resulting in excess ammonia in the body. The neonatal form of the condition can result in death or severe complications if not treated early enough.
  • Argininosuccinic aciduria: A rare inherited disorder of the urea cycle characterized by the lack of an enzyme (argininosuccinate lyase) which is needed to remove nitrogen from the body so a lack of the enzyme leads to a build-up of ammonia in the blood.
  • Arginninosuccinic acid synthetase deficiency:
  • Armani-Ebstein nephropathy: Abnormal deposits of glycogen in the kidneys that occurs in diabetics with very high levels of sugar in the blood and urine.
  • Aromatase deficiency: A congenital deficiency of the enzyme called aromatase which is needed to convert androgens to estrogens.
  • Aromatic amino acid decarboxylase deficiency: A rare inborn error of metabolism involving the deficiency of an enzyme (aromatic L-amino acid decarboxylase) needed to process aromatic amino acids. This results in a deficiency of neurotransmitters such as dopamine and serotonin. The condition manifests as movement and neurological problems.
  • Asparatate aminotransferase elevation: Elevation of asparatate aminotransferase in the serum seen in various liver diseases and other conditions such as
  • Aspartylglucosaminidase deficiency: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Aspartylglucosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Aspartylglycosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Attenuated congenital adrenal hyperplasia: A late onset form of congenital adrenal hyperplasia where insufficient adrenal corticosteroids are produced by the body due to the deficiency of a particular chemical. The severity of symptoms varies from person to person and onset may occur as early as childhood.
  • Atypical lipodystrophy: A rare disorder involving the localized loss of fatty tissue. More than one location may be involved. The condition is mainly associated with injections or acupuncture.
  • Avitaminosis: A group of diseases caused by the deficiency of one or more vitamins e.g. Beriberi (thiamine deficiency), rickets (Vitamin D deficiency), pellagra (niacin deficiency), pernicious anemia (Vitamin B12), bleeding (vitamin K deficiency) and night blindness (avitaminosis A). Symptoms depend on the type and degree of vitamin deficiency. Lack of various vitamins can affect just about every part of the body including the nervous system.
  • Axial osteomalacia: A rare bone disorder where an enzyme defect affects bone formation that primarily affects the ribs and iliac crest (hip bone).
  • Baker-Winegrad disease: A very rare syndrome caused by a deficiency of the enzyme fructose-1-6-diphosphatase which impairs the body's ability to break down fructose that is consumed in the diet.
  • Bamberger albuminuria (obsolete term): High albumin levels in the urine that occurs in the advanced stages of severe anemia.
  • Baraitser Brett Piesowicz syndrome: A very rare syndrome characterized by a small head and calcification in the brain.
  • Barraquer-Simons syndrome: A rare disorder that occurs in children and involves the progressive loss of fat layers under the skin which affects the face first and then spreads to the chest region and limbs.
  • Barth Syndrome: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 2 is characterized by its affects on the heart.
  • Bartter Syndrome: A rare genetic disorder of kidney metabolism characterized by reduced blood acidity and low potassium levels.
  • Bartter Syndrome type 4: Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4 also involves sensorineural deafness.
  • Bartter Syndrome type 4A: Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4A also involves sensorineural deafness.
  • Bartter Syndrome type 4B: Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4B also involves sensorineural deafness.
  • Bartter's syndrome, antenatal type 1: A rare genetic kidney disorder that causes hypokalemia. A defect in the NKCC2 gene impairs the functioning of the Na-Cl cotransporter and leads to electrolyte imbalance. The rate of death is high prior to diagnosis.
  • Bartter's syndrome, type 3: A rare condition characterized by an electrolyte imbalance caused by mutations of the chloride channel gene (ClCNKb). It differs from Bartter's syndrome type I and type II in the absence of nephrocalcinosis. The severity of the condition is greatly variable.
  • Bartters syndrome, antenatal , type 2: A rare genetic kidney disorder that causes hypokalemia. A defect in the ROMK gene impairs the ATP-regulated potassium channel functioning and leads to electrolyte imbalance.
  • Basal Ganglia Disease, Adult-Onset: A rare disorder where a genetic mutation results in a neurological disease resulting from abnormal iron and ferritin deposits in the brain.
  • Basal cell nevus anodontia abnormal bone mineralization: A rare syndrome characterized mainly by the association of basal cell nevus, absence of all teeth on one side of the mouth and abnormal bone mineralization.
  • Basal ganglia calcification, idiopathic 1: Abnormal calcium deposits in the part of the brain called the basal ganglia. Type 1 results in psychiatric, cognitive or neurological problems associated with the calcification. The symptoms experienced are variable.
  • Basal ganglia calcification, idiopathic 2: Abnormal calcium deposits in the part of the brain called the basal ganglia. The calcification is not associated with any other condition and occurs for no apparent reason. In type 2, there are no psychiatric, cognitive or neurological problems associated with the calcification.
  • Basal ganglia disease, biotin-responsive: A neurological disease that affects the part of the brain called the basal ganglia. The disease responds well to biotin administration but relapses within a month if the biotin is stopped. If the condition is diagnosed late or there are recurring episodes, the patient may suffer ongoing symptoms such as paraparesis, mild mental retardation or dystonia.
  • Batten Disease: Rare childhood genetic degenerative nerve system disease.
  • Beeturia: Some people excrete a beet pigment called betacyanin in the urine after they have consumed beets. People with iron deficiency are more likely to have beet pigments in their urine.
  • Benign familial hematuria: A rare inherited kidney disorder characterized by periods of blood in the urine. The kidney is still able to function normally.
  • Beradinelli-Seip congenital lipodystrophy:
  • Berardinelli-Seip congenital lipodystrophy: A rare genetic disorder characterized by diabetes mellitus, loss of body fat, hepatomegaly, enlarged genitals, increased skeletal growth and other abnormalities.
  • Berardinelli-Seip congenital lipodystrophy, type 1: A rare genetic disorder characterized by early-onset diabetes mellitus, loss of body fat, serious insulin resistance, high blood triglycerides and fatty liver. Type 1 is distinguished from type 2 by the origin of the genetic defect. Type 1 is caused by a defect on the AGPAT2 gene on chromosome 9q34.3. Type 1 seems to be less severe with some cases of type 2 resulting in premature death which can occur as early as the first year of life. Type 2 also involves mental retardation which is not seen in type 1.
  • Berardinelli-Seip congenital lipodystrophy, type 2: A rare genetic disorder characterized by early-onset diabetes mellitus, loss of body fat, serious insulin resistance, high blood triglycerides and fatty liver. Type 2 is distinguished from type 2 by the origin of the genetic defect. Type 2 is caused by a defect on the BSCL2 gene on chromosome 11q13. Type 2 seems to be more severe with some cases resulting in premature death which can occur as early as the first year of life. Type 2 also involves mental retardation which is not seen in type 1.
  • Beta ketothiolase deficiency: A rare inherited disease characterized by the bodies inability to metabolise certain amino acids and products of the breakdown of fat. Harmful levels of organic acids build up in the body and cause ketoacidic attacks.
  • Beta-Glutamylcysteine synthetase deficiency: A rare disorder of amino acid metabolism where deficiency of the enzyme called Beta-Glutamylcysteine synthetase impairs the body's ability to metabolize sulfur-containing amino acids.
  • Beta-hydroxybutyric aciduria: A rare disorder of amino acid metabolism where glycine and proline are unable to be metabolized properly due to deficiency of the enzyme called succinic semialdehyde dehydrogenase.
  • Beta-mannosidosis: A very rare type of inherited glycoprotein storage disease where deficiency of an enzyme called beta-mannosidase results in a build-up of certain sugars (oligosaccharides) which can harm the body.
  • Beta-ureidopropionase deficiency: A metabolic disorder where the deficiency of an enzyme (Beta-ureidopropionase) results mainly in neurological abnormalities such as mental retardation. The symptoms are variable however.
  • Bhaskar-Jagannathan syndrome: A very rare syndrome characterized primarily by long, thin fingers, amino acids in the urine, cataracts (during infancy), incoordination and delayed development.
  • Biber-Haab-Dimmer dystrophy: An inherited eye disorder where the cornea of the eye develops abnormal lattice-shaped lines caused by the abnormal deposition of a substance called amyloid. The abnormal deposits cause progressive vision impairment.
  • Bielschowsky disease: An eye disorder where one eye tends to drift upwards while the other remains fixed.
  • Biotinidase deficiency: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes.
  • Biotinidase deficiency, late onset: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes. The severity of symptoms may vary depending on the degree of deficiency. Severe cases can result in metabolic acidosis which can lead to death if treatment isn't given.
  • Blue Diaper Syndrome: A rare metabolic disorder characterized by vision problems, bluish urine, fever and digestive anomalies.
  • Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency: A rare inherited connective tissue disorder caused by a deficiency of a blood coagulation factor.
  • Borjeson Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.
  • Boyd-Stearns syndrome: A rare syndrome associated with various metabolic disorders such as glycosuria, acidosis, albuminuria and hypochloremia. Symptoms include rickets during infancy, short stature, low blood phosphate levels, malnutrition and osteoporosis.
  • Broad beta disease: An inherited condition involving a defect in the transport of lipids which causes the development of lipid deposits (xanthomas) under the skin in certain parts of the body.
  • Bronchopulmonary amyloidosis: Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage. In the bronchopulmonary form, the amyloid deposits occur mainly in the lungs.
  • Burnett's milk drinker's syndrome: Burnett's milk drinker's syndrome is a condition where the body is too alkaline and the blood contains too much calcium which results in impaired kidney function. It can be caused by drinking large quantities of milk or using too many alkaline antacid remedies. High vitamin D intake can make the condition worse. The people most at risk of this condition tend to be older people (especially women) who are taking calcium supplements as well as calcium carbonate containing remedies to treat dyspepsia.
  • Burnett's syndrome: Burnett's syndrome is a condition where the body is too alkaline and the blood contains too much calcium which results in impaired kidney function. It can be caused by drinking large quantities of milk or using too many alkaline antacid remedies. High vitamin D intake can make the condition worse. The people most at risk of this condition tend to be older people (especially women) who are taking calcium supplements as well as calcium carbonate containing remedies to treat dyspepsia.
  • Butyrylcholinesterase deficiency: A metabolic disorder involving an enzyme (butyrylcholinesterase) deficiency. It results in prolonged recovery from the effects of certain anesthetics such as succinylcholine and mivacurium which are muscle relaxants. The severity of the deficiency will determine the length of time taken to recover from anesthetic. In severe cases, patients can take more than 8 hours to recover.
  • C1esterase deficiency: C1esterase deficiency is a condition characterized by swelling under the skin or mucosal tissue - the skin, respiratory tract or gastrointestinal tract may be affected. The condition may be inherited or acquired. Symptoms tend to develop over a few days and then abate after two to five days. Swelling attacks may occur fairly regularly e.g. weekly or sporadically e.g. once or twice a year.
  • CD3 deficiency: Deficiency of a T-cell antigen receptor complex which results in mild combined immunodeficiency.
  • CDG syndrome (generic term): Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. The main symptom in all the disorders is psychomotor retardation but other variable symptoms also occur depending on the subtype of the disorder.
  • CDG syndrome type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • CDG syndrome type 1B: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1B has a phosphomannose isomerase enzyme defect.
  • CDG syndrome type 3: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 3 has variable symptoms.
  • CDG syndrome type 4: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 4 is caused by a genetic defect which involves the gene for a particular enzyme (dolichyl-P-mannose:Man-5-GlcNAc-2-PP-dolichyl-mannosyltransferase).
  • CDG syndrome type I: A rare genetic disorder where the body is unable to synthesize glycoproteins which results in multisystem problems.
  • CDG syndrome type Ic: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1C has a differs from the other subtypes by the type of enzyme which is deficient.
  • Calcification: Hard calcium deposits in tissues
  • Calcification of basal ganglia with or without hypocalcemia: Calcification of a part of the brain called the basal ganglia. That calcification may be associated with conditions such as hypothyroidism, cytomegalovirus, and AIDS or may occur for no apparent reason. The severity of the condition may vary greatly from asymptomatic to neurological, psychiatric and movement disorders. The disorder may also progress at variable rates or remain stable depending on the underlying disease process.
  • Calcinosis: Deposits of calcium in the body.
  • Calcium metabolism disorders:
  • Camptodactyly -- taurinuria: A rare disorder characterized by high urinary levels of taurine as well as a hand malformation.
  • Canavan leukodystrophy: A rare inherited disorder where a chemical imbalance in the brain leads to spongy degeneration of the central nervous system which results in progressive mental deterioration and associated symptoms.
  • Carbamoyl-phosphate synthase 1 deficiency: A very rare inherited urea cycle disorder where the lack of the enzyme carbamoyl phosphate synthetase prevents ammonia from being turned into urea and being excreted in the urine. Excess ammonia builds up in the body which can cause serious complications or even death if left untreated.
  • Carbohydrate deficiency glycoprotein syndrome type II: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2 is caused by a genetic defect which involves the gene for a particular enzyme (Golgi localized N-acetyl-glucosaminyltransferase II). Type 2 tends to have more severe psychomotor retardation than type 1 but there is no peripheral neuropathy or underdeveloped cerebellum.
  • Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency: A very rare inherited metabolic disorder where the body doesn't have enough of an enzyme called cytochrome C oxidase (COX) which is needed in the process of energy production by body cells. The fatal infant type generally affects the hear, brain and kidneys as well as the muscles.
  • Cardiomyopathy -- hypotonia -- lactic acidosis: A rare syndrome characterized by heart muscle disease, reduced muscle tone and lactic acidosis from birth.
  • Cardiomyopathy with myopathy due to COX deficency: A rare condition where an enzyme (cytochrome c oxidase) deficiency results in muscle disease which also affects the heart.
  • Carnitine Deficiency Syndromes: Syndromes associated with the deficiency of carnitine.
  • Carnitine Palmitoyl Transferase I Deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase 1) prevents fatty acids being transported to the part of the cell that converts it to energy.
  • Carnitine Palmitoyl Transferase II Deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase 1) prevents fatty acids being transported to the part of the cell that converts it to energy. There are two main subtypes of the disorder with each involving a slightly different form of the enzyme. Type I can be readily managed through diet. Type II has three subtypes: the myopathic form affects mainly the muscles; the hepatocardiomuscular form affects the liver and heart muscle; and the lethal neonatal form affects muscles and organs and usually results in death during the first year of life.
  • Carnitine palmitoyl transferase 1 deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase I) prevents fatty acids being transported to the part of the cell that converts it to energy.
  • Carnitine palmitoyl transferase 2 deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase) which prevents fatty acids being transported to the part of the cell that converts it to energy. There are two main subtypes of the disorder with each involving a slightly different form of the enzyme. Type I can be readily managed through diet. Type II has three subtypes: the myopathic form affects mainly the muscles; the hepatocardiomuscular form affects the liver and heart muscle; and the lethal neonatal form affects muscles and organs and usually results in death during the first year of life.
  • Carnitine palmitoyl transferase II deficiency, infantile hepatocardiomuscular type: A very rare metabolic disorder where deficiency of a particular enzyme (CPT II) prevents muscle fats being converted to energy. The infantile form of this disease affects the muscles and the liver and heart.
  • Carnitine palmitoyl transferase II deficiency, lethal neonatal form: A very rare metabolic disorder where deficiency of a particular enzyme (CPT II) prevents muscle fats being converted to energy. The lethal neonatal form affects various organs as well as the muscles and death usually occurs during the first year of life.
  • Carnitine palmitoyl transferase II deficiency, myopathic: A very rare metabolic disorder where deficiency of a particular enzyme (CPT II) prevents muscle fats being converted to energy. Prolonged exercise can cause an episode of muscle symptoms. The myopathic form of the condition is the least severe and tends to affect only the muscles.
  • Carnitine palmitoyl transferase deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase) which prevents fatty acids being transported to the part of the cell that converts it to energy. There are two main subtypes of the disorder with each involving a slightly different form of the enzyme. Type I can be readily managed through diet. Type II has three subtypes: the myopathic form affects mainly the muscles; the hepatocardiomuscular form affects the liver and heart muscle; and the lethal neonatal form affects muscles and organs and usually results in death during the first year of life.
  • Carnitine transporter deficiency: An inherited deficiency of carnitine caused by the impaired ability of the carnitine transporter protein to carry the carnitine to where it is needed. Instead the carnitine is excreted through the urine. Fasting or illness can trigger a severe attack.
  • Carnitine-acylcarnitine translocase deficiency: A very rare inherited metabolic disorder where long-chain fatty acids can't be metabolized properly because the compound needed to transport it is faulty. Ultimately this prevents certain fats (long-chain acylcarnitine) being converted to energy and results in a build up of the fat which is harmful to body organs and tissues.
  • Carnosinase deficiency: A very rare inherited metabolic disorder characterized by severe neurological abnormalities such as mental retardation and myoclonic seizures.
  • Carnosinemia: Excessive amounts of carnisine in the blood.
  • Caspase-8 deficiency: A rare type of immunodeficiency disorder caused by a deficiency of caspase-8. Caspase-8 an important part of the immune system as it is involved in the activation of T lymphocytes, B lymphocytes and natural killer cells.
  • Cataract -- intellectual deficit -- anal atresia -- urinary defects: A very rare syndrome characterized mainly by cataracts, mental retardation and genitourinary tract abnormalities and absent anal opening.
  • Cephalothoracic progressive lipodystrophy: A rare acquired disorder that involves adipose tissue abnormalities and is characterized by loss of adipose tissue mainly in the trunk and arms.
  • Cerebral Amyloid Angiopathy, Familial: A rare disorder where abnormal deposits of amyloid in the brain blood vessels causes spasticity, incoordination and dementia. Brain hemorrhage and strokes may also result in severe cases.
  • Cerebral calcifications opalescent teeth phosphaturia: A rare condition characterized mainly by the association of abnormal calcifications in the brain (cerebrum), opalescent teeth and excessive levels of phosphates in the urine.
  • Cerebral hemorrhage with amyloidosis, hereditary, Dutch type: An inherited condition characterized mainly by brain hemorrhage and amyloid deposits in the brain blood vessels. The size and location of the hemorrhage determines the severity of symptoms. The condition was first described in a Dutch family.
  • Cerebrotendinous Xanthomatosus: A rare syndrome where a genetic mutation results in a metabolic disorders caused by a deficiency of sterol 27-hydroxylase deficiency. The condition causes progressive neurological dysfunction, cataracts and premature atherosclerosis. Deposits of cholesterol and cholestanol can be found in any part of the body including the brain. The rate of progression and severity of symptoms varying amongst patients. The degree of neurological involvement is also variable.
  • Ceroid lipofuscinosis, neuronal: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). The 10 different type of the disorder are distinguished by the origin of the genetic defect.
  • Ceroid lipofuscinosis, neuronal 1, infantile: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (palmitoyl-protein thioesterase) needed to process it.
  • Ceroid lipofuscinosis, neuronal 10: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 10 involves a deficiency of cathepsin D and involves an initial period of normal development with neurodegenerative symptoms starting during the early school years.
  • Ceroid lipofuscinosis, neuronal 2, late infantile type: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (protease tri-peptidyl-peptidase) needed to process it.
  • Ceroid lipofuscinosis, neuronal 3, Juvenile: A progressive genetic disorder where defective lipid metabolism that causes blindness, neurological deterioration, dementia leading to total incapication within years and death within 10-15 years.
  • Ceroid lipofuscinosis, neuronal 4: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (palmitoyl-protein thioesterase 1) needed to process it.
  • Ceroid lipofuscinosis, neuronal 5: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 5 is distinguished from other types by the origin of the genetic defect.
  • Ceroid lipofuscinosis, neuronal 6, late infantile: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 6 usually occurs between the ages of 2 to 6 years. Type 6 is distinguished from other types by the origin of the genetic defect.
  • Ceroid lipofuscinosis, neuronal 7: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 7 is distinguished from other types by the origin of the genetic defect.
  • Ceroid lipofuscinosis, neuronal 8: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 8 is distinguished from other types by the origin of the genetic defect.
  • Ceroid lipofuscinosis, neuronal 8, northern epilepsy variant: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 8, northern epilepsy variant is distinguished from other types by the origin of the genetic defect. Mental retardation tended to occur by middle age despite normal development during the first few years of life.
  • Ceroid lipofuscinosis, neuronal 9: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 9 is distinguished from other types by the origin of the genetic defect.
  • Ceroid storage disease: A rare metabolic storage disease characterized by the abnormal deposits of a waxy substance called ceroid lipfuscin in various parts of the body such as the liver, spleen and intestinal lining.
  • Childhood hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate which results in loss of deciduous teeth before the age of 5 as well as muscle and bone problems - childhood onset.
  • Cholestatic jaundice -renal tubular insufficiency: A very rare syndrome characterized by liver and kidney problems.
  • Cholesterol pneumonia: Lung inflammation caused by cholesterol.
  • Cholesteryl ester transfer protein deficiency: A rare inherited disorder of cholesterol regulation where a deficiency of a transport molecule (cholesteryl ester transfer protein) results in cholesterol level abnormalities. The transport protein moves cholesterol from HDL molecules to other lipoproteins and hence regulates the size of HDL particles and plasma levels of HDL cholesterol. There is disagreement as to whether the condition increases, decreases or has no effect on the risk of coronary heart disease.
  • Chondrocalcinosis: A rare inherited metabolic disorder where the chemical calcium pyrophosphate dihyrdate is deposited in one or more joints in the body - usually the knee is affected.
  • Chondrocalcinosis familial articular: A very rare genetic disorder characterized by osteoarthritis which starts relatively early and is progressive. Joint damage is caused by deposits of crystals containing calcium.
  • Chondrodysplasia punctata with steroid sulfatase deficiency: A genetic skeletal and skin disorder involving a deficiency of steroid sulfatase. The skin condition is characterized by large brownish scales which can occur almost anywhere on the skin and can be disfiguring. The face, scalp, palms and soles are usually not involved. The skeletal disorder involves abnormal bone calcification near the joints also results in shortened limbs.
  • Choroid plexus calcification with mental retardation: A form of mental retardation associated with calcification of the choroids plexus which is the part of the brain involved in making cerebrospinal fluid.
  • Chronic liver disease: Any form of chronic liver disease
  • Chylomicron Retention Disease: A rare condition characterized by the inability of the intestines to absorb fats from the diet which cause failure to thrive in infants.
  • Chylomicron retention disease with Marinesco-Sjogren syndrome: A rare condition characterized by abnormal lipid metabolism, vitamin E deficiency, incoordination and short stature.
  • Citrulline transport defect: A rare metabolic disorder where citrulline is unable to be transported within the body which affects growth. In one case, a 19 year old had the height and weight of a 6 year old.
  • Citrullinemia: Citrullinemia is an inherited urea cycle disorder which causes toxic substances including ammonia to build up in the blood. There are two main subtypes of Citrullinemia (I and II) which are caused by different genetic abnormalities and result in different symptoms. Milder forms may present in childhood and rare late-onset forms (adult-onset) may not cause symptoms until adulthood.
  • Citrullinemia I: A very rare urea cycle disorder where a lack of the enzyme argininosuccinate synthetase prevents ammonia being turned into urea which can then be excreted in the urine. The build up of ammonia in the body can cause harmful effects. The neonatal form of citrullinemia type I is generally more serious than the later onset form which may sometimes be mild enough to produce no symptoms.
  • Citrullinemia I, later-onset: A very rare urea cycle disorder where a lack of the enzyme argininosuccinate synthetase prevents ammonia being turned into urea which can then be excreted in the urine. The build up of ammonia in the body can cause harmful effects. The later-onset form of citrullinemia type I is generally milder than the neonatal form and may sometimes be mild enough to produce no symptoms.
  • Citrullinemia II: A very rare urea cycle disorder involving a deficiency of the transport compound called Citrin. Citrin transports aspartate to where the enzyme argininosuccinic acid synthase can combine it with citrulline to make argininosuccinic acid. The deficiency prevents ammonia being turned into urea which can then be excreted in the urine. The build up of ammonia in the body can cause harmful effects.
  • Classic childhood ALD: Classic severe form of ALD in boys.
  • Classic galactosemia: Rare serious genetic defect in galactose metabolism.
  • Cobalamin R Binder Protein Deficiency: A rare inherited condition where the lack of a protein (R binder protein) results in a deficiency of cobalamin (vitamin B12). The condition is considered benign and no treatment is needed.
  • Cobalamin pseudodeficiency due to transcobalamin deficiency: A rare inherited condition where the lack of a protein (R binder protein) results in a deficiency of cobalamin (vitamin B12). The condition is considered benign and no treatment is needed.
  • Coenzyme Q cytochrome c reductase deficiency of: A rare genetic defect where an enzyme deficiency (CoQ-Cytochrome C reductase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as cardiomyopathy, fatal infant conditions and Leber's myopathy.
  • Collagen type III glomerulopathy: A rare progressive form of kidney disease characterized by the abnormal deposits of type III collagen in the kidneys. The severity and rate of progression of the condition is variable.
  • Combined hyperlipidemia, familial: An inherited condition characterized by high cholesterol or triglyceride levels which increases the risk of cardiovascular disease.
  • Combined oxidative phosphorylation deficiency 5: An inherited mitochondrial disorder which starts before birth and usually results in death within months of birth.
  • Complex 1 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (NADH CoQ) disrupts cellular processes and causes various organic acid disorders. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. Presentation may range from infantile death to various disorders such as Leigh's disease, Parkinson's disease and cardiomyopathy.
  • Complex 2 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (succinate CoQ reductase) disrupts cellular processes. The deficiency may result variable symptoms and condition including conditions such as Leigh's syndrome, myopathy and Kearns-Sayre syndrome.
  • Complex 4 mitochondrial respiratory chain deficiency: A very rare inherited metabolic disorder where the body doesn't have enough of an enzyme called enzyme cytochrome C oxidase (COX or Complex IV) which is needed in the process of energy production by body cells. There are two subtypes: the benign infantile type only affects muscles whereas the fatal infant type affects the hearty and kidneys as well as the muscles.
  • Complex 4 mitochondrial respiratory chain deficiency, benign infantile myopathy: A very rare inherited metabolic disorder where the body doesn't have enough of an enzyme called enzyme cytochrome C oxidase (COX or Complex IV) which is needed in the process of energy production by body cells. The deficiency generally only affects the muscle tissue
  • Complex 4 mitochondrial respiratory chain deficiency, fatal infant myopathy type: A very rare inherited metabolic disorder where the body doesn't have enough of an enzyme called enzyme cytochrome C oxidase (COX or Complex IV) which is needed in the process of energy production by body cells. The fatal infant type generally affects the hearty and kidneys as well as the muscles.
  • Complex 5 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (ATP synthetase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as Leber's myopathy, Leigh syndrome, cardiomyopathy and NARP (neuropathy, ataxia, retinitis pigmentosa).
  • Congenital Diarrhea, Secretory Sodium, 3: A congenital condition characterized by diarrhea resulting form a defect in the sodium/hydrogen exchange. The severity of the condition is variable.
  • Congenital Diarrhea, Secretory Sodium, Syndromic, 3: A congenital syndrome characterized by diarrhea resulting form a defect in the sodium/hydrogen exchange as well as other variable anomalies. The severity of the condition is variable.
  • Congenital Disorder of Glycosylation, Type 1n: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1N has a defect in the RFT1 gene which results in decreased activity of an enzyme called dolichol-phosphage-mannose (Dol-P-M).
  • Congenital Disorder of Glycosylation, Type 1o: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1O has a defect in the DPM3 gene which results in decreased activity of an enzyme called dolichol-phosphage-mannose (Dol-P-M).
  • Congenital Disorders of Glycosylation: Congenital disorders of glycosylation is a group of disorders involving abnormally synthesis of N-linked oligosaccharides. There is a long chain of events involved in the synthesis and defects may occur with any of the compounds or enzymes involved in the process. Progressive impairment and regression of skills often occurs after a period of normal development following birth.
  • Congenital Disorders of Glycosylation Type Ia: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • Congenital adrenal hyperplasia -- non-classical form: A late onset form of congenital adrenal hyperplasia where insufficient adrenal corticosteroids are produced by the body due to the deficiency of a particular chemical. The severity of symptoms varies from person to person and onset may occur as early as childhood.
  • Congenital adrenal hyperplasia -- simple virilizing form in males: A group of disorder that occur when a deficiency of 21-hydroxylase impairs the normal process of making adrenal corticosteroids. The simple virilizing form involves a moderate deficiency of 21-hydroxylase and differs in its effects on males and females.
  • Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency: A rare genetic condition involving deficiency of 17-alpha-hydroxylase which impairs androgen production by the testes and estrogen production by the ovaries. This results in lack of development of secondary sexual characteristics and hypertension as well as other anomalies.
  • Congenital analbuminemia: A rare disorder where low or absent blood albumin levels are present at birth or soon after. Some cases are virtually asymptomatic as the liver compensates by making other proteins but other cases can result in symptoms such as osteoporosis and high blood lipid levels.
  • Congenital brain dysgenesis due to glutamine synthetase deficiency: A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in severe brain malformations and infant death within weeks of birth.
  • Congenital chloride diarrhea: A rare birth disorder where the intestines don't absorb electrolytes properly (especially chloride) which leads to electrolyte imbalance which is potentially fatal if untreated. Symptoms often start while the infant is still inside the womb.
  • Congenital disorder of Glycosylation type Ic: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1C has a differs from the other subtypes by the type of enzyme which is deficient.
  • Congenital disorder of glycosylation type 1/IIX: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type I/IIX refers to cases where the specific abnormality cannot be determined.
  • Congenital disorder of glycosylation type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • Congenital disorder of glycosylation type 1B: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1B has a phosphomannose isomerase enzyme defect.
  • Congenital disorder of glycosylation type 1C: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1C has a ?1,3-glucosyl-transferase enzyme defect.
  • Congenital disorder of glycosylation type 1D: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1D has a ?1,3-Mannosyl transferase enzyme defect.
  • Congenital disorder of glycosylation type 1E: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1E has a Dol-P-Man synthase enzyme defect.
  • Congenital disorder of glycosylation type 1F: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type IF is caused by a defect on chromosome 17p13.1-p12 and involves a defect on the MPDU1 gene.
  • Congenital disorder of glycosylation type 1G: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type IG is caused by a defect on chromosome 22q13.33 and involves the gene for a particular enzyme (dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase).
  • Congenital disorder of glycosylation type 1H: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ih is caused by a defect on chromosome 11pter-p15.5 and involves the gene for a particular enzyme (dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase).
  • Congenital disorder of glycosylation type 1I: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ii is caused by a defect on chromosome 9q22 and involves a defect on the ALG2 gene.
  • Congenital disorder of glycosylation type 1J: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ij is caused by a defect on chromosome 11q23.3 and involves a defect on the gene for UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase.
  • Congenital disorder of glycosylation type 1K: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ik is caused by a defect on chromosome 16p13.3 and involves a defect in the gene for beta-1,4-mannosyltransferase. The disorder is generally fatal within a year or two of birth.
  • Congenital disorder of glycosylation type 1L: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Il is caused by a defect on chromosome 11q23 and involves a defect in the ALG9 gene.
  • Congenital disorder of glycosylation type 1M: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Im is caused by a defect on chromosome 9q34.11 and involves a defect in the TMEM15 gene.
  • Congenital disorder of glycosylation type 1X: Congenital disorder of glycosylation is a rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1X also involves thrombocytopenia with normal levels of phosphomannomutase and phosphomannose isomerase. This form of the condition is severe and results in death during infancy.
  • Congenital disorder of glycosylation type 2A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2A has a GlcNAc transferase 2 enzyme defect.
  • Congenital disorder of glycosylation type 2B: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2B has glucosidase I enzyme defect.
  • Congenital disorder of glycosylation type 2C: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2c is caused by a defect on chromosome 11p11.2 and involves a defect in the gene for GDP-fucose transporter.
  • Congenital disorder of glycosylation type 2D: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2d is caused by a defect on chromosome 9p13 and involves a defect in the gene for beta-1,4-galactosyltransferase.
  • Congenital disorder of glycosylation type 2E: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2e is caused by a defect on chromosome 16p and involves a defect in the gene for oligomeric complex-7.
  • Congenital disorder of glycosylation type 2F: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type IIf is caused by a defect on chromosome 6q25.16q15 and involves a defect on the gene for CMP-sialic acid transporter.
  • Congenital disorder of glycosylation type 2G: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type IIg is caused by a defect on chromosome 17q25.1 and involves a defect on the COG1 gene.
  • Congenital disorder of glycosylation type 2H: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type IIh is caused by a defect on chromosome 16q22.1 and involves a defect on the COG8 gene.
  • Congenital disorder of glycosylation type IIH: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type IIh is caused by a defect on chromosome 16q22.1 and involves a defect on the COG8 gene.
  • Congenital disorder of glycosylation type X -- Bombay blood group phenotype: A rare inherited disorder characterized by abnormal neutrophil functioning which reduces the body's immunity. The abnormal neutrophils are unable to be transported to sites of infection due to their inability to adhere to certain blood vessel components which would normally lead them to the infection site. Infections may be life-threatening as the body is unable to destroy bacteria effectively. Type 2 LAD is where neutrophils can't adhere to necessary blood vessel components due to the absence of proteins on the blood vessel walls needed to bind and guide the neutrophils to the infection site.
  • Congenital disorder of glycosylation type X -- leukocyte adhesion deficiency syndrome type II phenotype: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type X has an unknown enzyme defect.
  • Congenital disorder of glycosylation, type In: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1n involves a defect in the RFT1 gene and is characterized mainly by enlarged liver, seizures, developmental delay, reduced muscle tone and abnormal blood coagulation.
  • Congenital hepatic porphyria: A rare congenital disorder where there is an excess of porphyrin (pigments) in the body. The liver is responsible for making porpyrins.
  • Congenital lactase deficiency: A congenital metabolic disorder where a deficiency of an enzyme called lactase impairs the body's ability to digest milk and other products that contain lactose. Symptoms tend to occur soon after consuming such products. The severity of symptoms depends on the degree of lactase deficiency.
  • Congenital partial lipodystrophy: A rare congenital disorder that involves adipose tissue abnormalities and is characterized by loss of adipose tissue mainly in the trunk and limbs.
  • Congenital sucrose-isomaltose malabsorption: A rare disorder where a congenital deficiency of an enzyme (sucrase-isomaltase) prevents the absorption of sucrase and isomaltose consumed in the diet.
  • Cormier Rustin Munnich syndrome: Deficiency of certain chemicals involved in the respiratory chain can result in various malformation depending on the chemical involved and the degree of deficiency.
  • Corticosteroid-binding globulin deficiency: A genetic disorder causing a deficiency of corticosteroid-binding globulin which manifests as fatigue, muscle fatigue and blood pressure problems. Some patients are asymptomatic whereas others suffer muscle and generalized fatigue as well as blood pressure problems.
  • Corticosterone Methyloxidase type I Deficiency: A very rare genetic disorder where deficiency of a particularly chemical (aldosterone synthase) results in a deficiency of aldosterone. The condition can be severe enough to cause infant death unless the patient is diagnosed and treated.
  • Cortisone reductase deficiency: An inborn error of steroid metabolism due to a deficiency of an enzyme called cortisone reductase (11-beta-hydroxysteroid dehydrogenase). This enzyme is needed to convert cortisone to cortisol.
  • Creatine deficiency, X-linked: A rare inherited disorder characterized mainly by mental retardation, seizures, short stature and facial anomalies. The disorder is caused by the absence of a compound needed to transport creatine and thus creatine levels may be normal or high, but the body is unable to utilize it.
  • Crystal deposit disease: A group of diseases characterized by the deposit of crystals in body tissues. Some examples of such disorders includes scleroderma, dermatomyositis, arthritis and kidney disease. The severity and type of symptoms depend on the nature and location of the crystals deposited.
  • Cutis Laxa with Bone Dystrophy: A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay.
  • Cutis Laxa with or without Congenital Disorder of Glycosylation: A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay.
  • Cutis laxa -- osteoporosis: A very rare disorder characterized mainly by loose skin and osteoporosis. The bones are so weak they fracture easily during infancy and can result in bone deformity.
  • Cycloserine-induced Sideroblastic anemia: Cycloserine -induced sideroblastic anemia is a blood disorder caused by taking a drug called Cycloserine. The body has sufficient iron levels but is unable to utilise it properly in red blood cells. The iron becomes abnormally deposited in red blood cells which make them unable to function properly.
  • Cystine stone: A stone caused by a defect in cystine metabolism
  • Cystinosis: A rare biochemical disorder involving the accumulation of a chemical called cystine in various parts of the body which can cause harmful effects.
  • Cystinosis, ocular nonnephropathic: A rare biochemical disorder involving deposits of a chemical called cystine in the cornea of the eye.
  • Cystinuria: A rare inherited condition characterized by the abnormal transport of various amino acids (cystine, lysine, arginine, ornithine) resulting in excess amounts in the urinary system where it can form stones.
  • Cystinuria -- lysinuria: A rare metabolic disorder characterized by the excessive excretion of certain amino acids (lysine and cystine) in the urine. Neurological symptoms are common.
  • Cytochrome C Oxidase Deficiency: Cytochrome C oxidase deficiency is a rare inherited condition involving insufficient quantities of the cytochromc C oxidase enzyme. This enzyme plays a role in the functioning of the energy producing part of body cells (mitochondria) and its deficiency impairs the energy-producing functions of the cells. The type and severity of symptoms can vary considerably depending on which particular cells in the body are affected and the degree of the enzyme deficiency. In some cases only skeletal muscles are affected whereas in other cases organs such as the heart and brain are involved. In other cases, the whole body may be involved.
  • Cytochrome c oxydase deficiency, French-Canadian type: A rare, progressive, inherited metabolic disorder where a deficiency of the enzyme cytochrome C oxidase affects skeletal muscles, connective tissue, brain and liver.
  • D-glycericacidemia: A rare metabolic disorder where the deficiency of an enzyme (D-Glycerate Kinase) causes high levels of glycine in the body.
  • DIDMOAD Syndrome, Mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
  • DOC 12 (Neutral Lipid Storage Type): A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms is variable as the body tissues and organs affected varies amongst patients.
  • Deafness hyperuricemia neurologic ataxia: A rare inherited disorder characterized by a high level of uric acid in the blood, renal insufficiency, ataxia and deafness.
  • Deal-Barratt-Dillon syndrome: A very rare syndrome characterized mainly by scaly skin, jaundice, diarrhea and Fanconi syndrome (bone marrow fails to make sufficient new blood cells).
  • Decreased bile acid 75-selenium homotaurocholate: The inability of the body to retain bile acid labeled radioactively
  • Decreased serum phosphate: Decreased serum phosphate (or hypophosphatemia) refers to an electrolyte disturbance involving a lower than normal level of phosphate in the blood. This abnormality may in some cases be associated with increased levels of phosphate in the urine but this depends on the underlying cause. The nature and severity of symptoms can vary considerably depending on how low the serum phosphate level is.
  • Decreased serum urea: A decreased amount of urea in the blood plasma
  • Decreased urine chloride: A decrease in the urine chloride levels
  • Defect in synthesis of adenosylcobalamin: A rare genetic disorder characterized by the impaired ability to make a chemical called adenosylcobalamin. Adenosylcobalamin is a derivative of vitamin B12. The defect results a biochemical abnormality which affects the body's normal biochemical functioning.
  • Defective apolipoprotein B-100: A rare inherited condition where defective apolipoprotein B-100 impairs the metabolism of cholesterol and results in high blood cholesterol which in turn increases the risk of cardiovascular disease.
  • Deficiency of Member 8 Acyl-CoA Dehydrogenace Family: An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and severity of symptoms is variable.
  • Dehydratase deficiency: A very rare condition involving a deficiency of the enzyme called dehydratase. It is usually asymptomatic and often associated with high blood phenylalanine levels.
  • Delta-1-pyrroline 5-carboxylate synthetase deficiency: A rare syndrome caused by an enzyme deficiency (Delta-1-pyrroline 5-carboxylate synthetase).
  • Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency: A rare metabolic abnormality involving a deficiency of a particular enzyme (Delta-1-pyrroline-5-carboxylate dehydrogenase) which affects amino acid metabolism and causes mental retardation and convulsions.
  • Dementia, familial British: A rare, early-onset inherited form of dementia caused by deposits of amyoid substances (amyloid) and degenerative nerve changes in the brain.
  • Deposition diseases related fibromyalgia: Deposition diseases related fibromyalgia refers to fibromyalgia that is associated with deposition diseases. Fibromyalgia is a chronic condition characterized mainly by pain mainly in the muscles which involves no associated damage to the tissues. Deposition diseases involve the abnormal deposit of material in parts of the body such as the joints e.g. gout.
  • Dermatoleukodystrophy: A very rare progressive brain disease associated with thick wrinkled skin. Only two reported cases with both dying within three years of birth.
  • Desmosterolosis: A rare condition characterized by abnormal cholesterol biosynthesis where one of the intermediate products of cholesterol synthesis (desmosterol) is deposited in the body (plasma and other tissues). The condition also involves variable congenital anomalies which can be lethal in some cases.
  • Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency: A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbutyryl-coenzyme A dehydrogenase) needed to convert the amino acid isoleucine into energy. 2-methylbutyrylglycine levels build up in the body and may cause damage. Symptoms vary according to the degree of enzyme deficiency - can range from asymptomatic to life-threatening.
  • Di Mauro-Hartlage syndrome: A rare inherited glycogen storage disorder involving a total absence of muscle phosphorylase needed to convert glycogen to glucose in the muscles. It is a rare, atypical variant of McArdle disease which causes death within months of birth.
  • Diabetes: Failing or reduced ability of the body to handle sugars.
  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility to, 3: Noninsulin-dependent diabetes (Type 2 diabetes) is a type of diabetes that doesn't respond to insulin but does tend to respond to dietary measures and diabetes medication. Researchers have discovered a number of genes which are linked to an increased risk of developing Type 2 diabetes. The genetic anomaly alone is not enough to cause the disease but simply increases the risk. Type 3 is linked to a defect on chromosome 20q12-q13.1.
  • Diabetes mellitus, permanent neonatal -- pancreatic and cerebellar agenesis: A rare syndrome characterized by the abnormal development of the cerebellum and pancreas which results in diabetes mellitus.
  • Diabetic Diarrhea: Diarrhea that occurs in diabetics as a result of the damage done by diabetes to the digestive system. Digestive system damage is caused by intestinal neuropathy (damage to intestinal nerves) or bacterial overgrowth or both.
  • Diabetic Gastroparesis: Gastroparesis is a diabetic complication that occurs from neuropathy of the stomach nerve (called the "vagus nerve"). This causes digestive difficulties as the food starts to move too slowly through the stomach.
  • Diabetic Ketoacidosis: Life-threatening complication of high blood sugars and diabetes.
  • Dialysis osteomalacia syndrome: Softening of the bones and subsequent fractures that occurs in some patients undergoing chronic hemodialysis. Excessive aluminum levels are believed to be implicated in some cases and reducing these levels can improve the prognosis.
  • Dialysis-related amyloidosis: Amyloidosis (protein deposits) from kidney dialysis treatment.
  • Dibasic aminoaciduria 2: A rare condition where protein intolerance occurs as a result of a defect in the transport of dibasic amino acids through the intestines and kidneys. The amino acids (component of protein) can't be broken down properly and used by the body so it builds up and causes damage.
  • Dibasic aminoaciduria type 1: A rare disorder where the kidney excretes excessive amounts of certain amino acids (lysine, ornithine and arginine.
  • Dicarboxylicaminoaciduria: A rare metabolic syndrome involving a defect in the transport of certain amino acids (glutamate, aspartate) and resulting in high levels of dicarboxylic amino acids in the urine. Often no observable symptoms occur.
  • Dihydropyrimidine dehydrogenase deficiency: A metabolic error where a deficiency of an enzyme called dihydropyrimidine dehydrogenase prevents the normal metabolism of certain proteins. High levels of certain proteins are excreted in the urine. The enzyme is also needed the breakdown a chemotherapy drug called 5-flurouracil and its absence can result in a severe toxicity reaction.
  • Disorder of Cornification 12 (Neutral Lipid Storage Type): A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms is variable as the body tissues and organs affected varies amongst patients.
  • Disuse osteoporosis: Disuse osteoporosis is defined as localized or generalized bone loss resulting from reduction of mechanical stress on bones.
  • Dobriner syndrome: An inherited metabolic disorder involving a deficiency of coproporphyrinogen oxidase. The condition is similar to but milder than intermittent porphyria and sometimes includes photosensitivity.
  • Dopamine beta-hydroxylase deficiency: A very rare disorder involving a deficiency of dopamine beta-hydroxylase which affects production of noradrenaline and adrenaline and results in symptoms such as low blood pressure on standing, droopy eyelids and stuffy nose.
  • Drug-induced osteoporosis: Drug induced osteoporosis is both preventable and treatable.
  • Dubin-Johnson Syndrome: A rare inherited condition where impaired metabolism of bilirubin results in chronic mild jaundice.
  • Dunnigan syndrome: A rare metabolic disorder involving abnormal fat distribution where fat accumulates on areas such as the face, shoulders, neck and genitals but gradually disappears from the limbs, trunk and buttocks.
  • Dunningan syndrome: A rare metabolic disorder involving abnormal fat distribution where fat accumulates on areas such as the face, shoulders, neck and genitals but gradually disappears from the limbs, trunk and buttocks.
  • Dyslipidemia: Abnormal lipid levels in the blood which may manifest as high cholesterol, triglycerides or LDL and low HDL.
  • Eccentrochondrodysplasia: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down.
  • Electron Transfer Flavoprotein, deficiency of: A metabolic disorder involving an enzyme deficiency - electron transfer flavoprotein ubiquinone oxydoreductase. The severity of symptoms depends on the level of deficiency. The infant onset form is the most severe.
  • Encephalo cranio cutaneous lipomatosis: A rare genetic disorder characterized by craniofacial lipomas, cerebral atrophy and patches of alopecia.
  • Encephalopathy due to GLUT1 deficiency: A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these metabolites build up in the body and cause neurological problems. Symptoms often develop following an acute infection or fasting. The severity of the condition is highly variable from development of neurological symptoms during infancy to asymptomatic adults. The degree of enzyme deficiency will usually determine the severity.
  • Encephalopathy due to sulphite oxidase deficiency: An inborn error of metabolism where an enzyme (sulphite oxidase) deficiency results in encephalopathy. Symptoms usually start at birth.
  • Encephalopathy, familial, with neuroserpin inclusion bodies: A rare neurodegenerative disorder involving brain disease due to a genetic chemical abnormality which results in the abnormal deposit of neuroserpin inclusion bodies which is harmful to the nerves.
  • Enolase deficiency: Enolase deficiency is a very rare enzyme defect. Enolase is an enzyme involved in carbohydrate metabolism in muscle tissue. The severity of symptoms is variable.
  • Enolase deficiency type 3: A rare disorder involving a deficiency of beta-enolase enzyme which caused muscle pain and exercise intolerance. Beta-enolase is a muscle specific enzyme.
  • Epidermal nevus -- vitamin D resistant rickets: A rare syndrome characterized mainly by the presence of birth marks on the skin, bone abnormalities and mental retardation.
  • Erythropoietic Protoporphyria: A condition where there is excessive formation of porphyrin or its precursor
  • Ethylmalonic aciduria: A very rare inherited disorder characterized by neurological and vascular symptoms caused by an excessive buildup of ethylmalonic aciduria.
  • Fabry's Disease: Genetic fat storage disorder
  • Fahr's Syndrome: A rare neurologic disorder where calcium is deposited in various parts of the brain resulting in progressive loss of motor and mental function.
  • Familial Apolipoprotein A-I and C-III Deficiency: Familial Apolipoprotein A-I and C-III Deficiency is a lipid metabolism disorder characterized by low HDL cholesterol and a lack of apolipoproteins A-I and C-III in the blood.
  • Familial Apolipoprotein A-I, C-III, A-IV Deficiency: Familial Apolipoprotein A-I, C-III and A-IV Deficiency is a lipid metabolism disorder characterized by low HDL cholesterol and a lack of apolipoproteins A-I and C-III in the blood.
  • Familial Articular Chondrocalcinosis: An hereditary condition affecting the joints with the formation of calcium pyrophosphate
  • Familial Dysbetalipoproteinemia: An hereditary condition characterized by the accumulation of abnormal B-lipoproteins in the blood
  • Familial HDL deficiency: A rare genetic disorder characterized by a deficiency of high density lipoproteins (HDL). Severity of symptoms is determined by the degree of deficiency. The disorder tends to run in families (familial).
  • Familial Hypercholesterolemia: A genetic abnormality which causes patients to have abnormally high cholesterol levels (low-density lipoproteins). The condition usually leads to early cardiovascular disease.
  • Familial Lactase Deficiency: A congenital metabolic disorder where normal amounts of lactase are produced but the lactase is defective and unable to digest milk and other products that contain lactose. Symptoms tend to occur soon after consuming such products.
  • Familial Lipoprotein Lipase Deficiency: An hereditary condition characterized by a deficiency of lipoprotein lipase
  • Familial amyloid polyneuropathy: A rare inherited condition where impaired nerve function is caused by amyloid deposits in peripheral nerves.
  • Familial dysalbuminemic hyperthyroxinemia: An inherited characteristic involving increased levels of thyroxine in the blood and abnormal serum blood despite normal thyroid gland functioning. The condition may be mistaken for hyperthyroidism.
  • Familial hematuria, autosomal dominant -- retinal arteriolar tortuosity -- contractures: A rare inherited disorder characterized by blood in the urine, contractures and retinal anomalies.
  • Familial hyperchylomicronemia: A rare inherited inborn error of metabolism involving the absence of the enzyme called lipoprotein lipase which results in increased blood triglyeride and chylomicron levels.
  • Familial hyperlipoproteinemia: A group of genetic disorder characterized by abnormal breakdown of lipoproteins which causes abnormal lipoprotein and lipid levels in the blood. There are various types of this condition: hyperlipoproteinemia type I, II, III, IV and V. The type and severity of symptoms vary between types. The disorder tends to run in families (familial).
  • Familial hyperlipoproteinemia type 1: A genetic disorder characterized by abnormal lipid (chylomicrons and high triglyceride lipids) breakdown which results in its accumulation in the blood. The disorder is caused by the reduced or absent activity of the enzyme lipoprotein lipase. The severity of the condition is determined by the degree of the deficiency and treatment. The disorder tends to run in families (familial).
  • Familial hyperlipoproteinemia type 3: A genetic disorder characterized by abnormal lipid (cholesterol and triglyceride) breakdown which causes it to accumulate in the blood. The disorder tends to run in families (familial).
  • Familial hyperlipoproteinemia type 4: A familial condition where even a normal diet can result in blood lipid abnormalities.
  • Familial hypertriglyceridemia: A familial condition where even a normal diet can result in blood lipid abnormalities.
  • Familial hypertryptophanemia: A rare genetic metabolic disorder characterized by high levels of tryptophan in the blood. The disorder tends to run in families (familial).
  • Familial infantile metachromatic leukodystrophy -- late infantile: An infantile form of an inherited biochemical disorder involving a deficiency of an enzyme called cerebroside sulfatase. The enzyme deficiency causes cerebroside sulfate to build up within the body and causes damage to the nervous system including the brain. The late infantile form of this disease is much more common than the juvenile or adult form.
  • Fanconi syndrome: Fanconi syndrome that occurs secondary to the accumulation of crystals of light-chain immunoglobulin molecules in the kidney tubules which affects their functioning.
  • Fanconi-Albertini-Zellweger syndrome: A rare syndrome characterized mainly by congenital heart defect, brain abnormalities, unusual face and metabolic acidosis.
  • Fanconi-Bickel syndrome: A rare inherited disorder where the impaired metabolism of carbohydrates results in a build-up of glycogen in the liver.
  • Farber Disease: A lysosomal storage disease due to defective ceramidase and characterized by hoarsness, aphonia , dermatitis and psychomotor retardation.
  • Farber's disease: A rare inherited biochemical disorder involving the deficiency of an enzyme called ceramidase resulting in the harmful accumulation of certain chemicals in the body which causes damage and inflammation.
  • Fatty liver disease: Fatty liver disease can range from fatty liver alone (steatosis) to fatty liver associated with inflammation (steatohepatitis). This condition can occur with the use of alcohol (alcohol-related fatty liver) or in the absence of alcohol (nonalcoholic fatty liver disease [NAFLD]).
  • Female carrier ALD: Mild form of ALD in female carriers
  • Fibrodysplasia Ossificans Progressiva: A rare genetic connective tissue disorder characterized by a short toe, fibrous dysplasia and bone formation in muscles, ligaments, tendons and soft connective tissue.
  • Fibrolipomatosis: Fibrolipomatosis is a term used to describe a fibrous fatty enlargement of a tissue. The enlargement can occur in various parts of the body but is most often seen in the kidneys. Symptoms will vary considerable depending on the location of the fibrolipomatosis.
  • Finnish lethal neonatal metabolic syndrome: A very rare lethal metabolic disorder characterized by a deficiency of complex III which causes brain, kidney and liver problems and ultimately results in early death.
  • Fish-eye disease: A familial disorder involving corneal opacities and low HDL cholesterol levels. It occurs as a result of an enzyme (lecithin:cholesterol acyltransferase) deficiency.
  • Folinic acid-responsive seizures: A form of seizures that respond to treatment with folinic acid. The seizures usually start within a week of birth.
  • Forbes disease: A rare inherited glycogen storage disease caused by a deficiency of the enzyme amylo-1,6-glucosidase resulting in a build up of glycogen in the liver and muscles.
  • Free sialic Acid storage disease: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. There are mild and severe forms of the condition - the severe form result in death before birth or within a few years of birth.
  • Fructose intolerance: An enzyme deficiency that causes toxic symptoms when fructose containing food is ingested.
  • Fructose-1,6-bisphosphatase deficiency, hereditary: A rare inherited condition where an enzyme deficiency (fructose-1,6-bisphosphatase deficiency - FDPase) impairs the body's ability to metabolize fructose from the diet.
  • Fructose-1-phosphate aldolase deficiency, hereditary: An inherited metabolic disorder where deficiency of the enzyme fructose-1-phsophate aldolase prevents fructose being metabolized resulting in fructose intolerance.
  • Fructosuria: A rare harmless asymptomatic condition caused by a lack of the liver enzyme called fructokinase which is needed to turn fructose into glycogen.
  • Fucosidosis: A rare progressive biochemical disorder involving deficiency of an enzyme (alpha-fucosidase) which results in accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues.
  • Fucosidosis type 1: A rare biochemical disorder involving deficiency of an enzyme (alpha-fucosidase) which results in accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. It is an infantile form of fucosidosis which starts early and rapidly progresses to early death.
  • Fucosidosis type II: A form of the biochemical disorder called fucosidosis where an enzyme deficiency (alpha-fucosidase) results in the accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. Symptoms start later and progress slower than in type I and is distinguished by warty skin growths.
  • Fumaric aciduria: A rare inborn metabolic error where a deficiency of the enzyme fumarase due to a genetic defect impairs the body's ability to break down fumarate into malate which results in increased fumaric acid levels in the urine.
  • GM1 gangliosidosis: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type 1 is a severe infantile form of the disorder and involves a greater degree of accumulation than type II or III.
  • GM2-gangliosidosis, AB variant: A very rare inherited disorder where the brain and spinal cord nerve cells (central nervous system) are progressively destroyed.
  • GSD IIB -- formerly: A rare inherited disorder characterized by severe heart problems, varying degrees of muscle weakness and often mental retardation. Other symptoms such as mental retardation may also occur. The genetic anomaly manifests as a deficiency of a protein called LAMP-2 (Lysosomal-Associated Membrane Protein 2) which affects lysosomes. The condition is now known as Danon disease.
  • GSD2B -- formerly: A rare inherited disorder characterized by severe heart problems, varying degrees of muscle weakness and often mental retardation. Other symptoms such as mental retardation may also occur. The genetic anomaly manifests as a deficiency of a protein called LAMP-2 (Lysosomal-Associated Membrane Protein 2) which affects lysosomes. The condition is now known as Danon disease.
  • GTP cyclohydrolase deficiency: A rare metabolic disorder caused by an enzyme deficiency (GTP cyclohydrolase) which causes a harmful build up of phenylalanine in the blood.
  • Galactokinase deficiency: A rare condition where an enzyme deficiency (galactokinase) impaires the body's ability to break down galactose consumed in the diet.
  • Galactosemia: Any of a number of recessive disorders that cause accumulation of galactose in the blood from an inability to metabolise galactose
  • Galactosemia I: A rare inherited disorder where deficiency of a particular enzyme (galactose-1-phosphate uridyl transferase) prevents the metabolism of galactose which is a sugar component of milk. Ranges from milk intolerance in mild cases to death in severe untreated cases.
  • Galactosemia III: A rare inherited disorder where deficiency of a particular enzyme (UDP-Galactose-4-epimerase) prevents the metabolism of galactose which is a sugar component of milk. The condition may vary from mild to severe.
  • Gamma aminobutyric acid transaminase deficiency: A rare disorder of amino acid metabolism characterized by a deficiency of the enzyme called Beta-aminobutyrate aminotransferase.
  • Gamma-cystathionase deficiency: A rare metabolic defect where a buildup of cystathionine in the body is due to an enzyme deficiency (cystathionine gamma-lyase) which normally converts methionine into cysteine. The condition is usually asymptomatic.
  • Gangliosidosis GM1 type 3: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type III involves a lesser degree of accumulation than type II or I.
  • Gangliosidosis generalized GM1, type 1: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type 1 is a severe infantile form of the disorder and involves a greater degree of accumulation than type II or III.
  • Gangliosidosis, generalized GM1 type 2: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase 1) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type III involves a lesser degree of accumulation than type II or I. Death can occur early in life in severe cases but milder cases can survive into late childhood.
  • Gangliosidosis, generalized GM1 type 3: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type III involves a lesser degree of accumulation than type II or I.
  • Gastroesophageal Reflux Disease: Repeated reflux of stomach acid into the throat.
  • Gastrointestinal amyloidosis: Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage. In gastrointestinal amyloidosis, amyloid deposits occur in the gastrointestinal tract.
  • Gastroparesis: Slow stomach emptying from stomach nerve damage
  • Gaucher Disease: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3.
  • Gaucher disease -- perinatal lethal form: A rare syndrome characterized by the association of abnormally tight skin and Gaucher disease which is a lipid storage disease. This is the most severe form of Gaucher disease.
  • Gaucher disease type 1: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. Type 1 is the visceral, chronic form which usually starts during adulthood.
  • Gaucher disease type 2: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. Type 2 is acute neurological form apparent in infancy.
  • Gaucher disease type 3: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. Type 3 is a subacute neurological form which often first appears in childhood.
  • Gaucher-like disease: A very rare inherited condition where the body's inability to bread down a certain fat (glucocerebroside) causes it to accumulate in body tissues and organs where it can cause damage. Gaucher-like disease is a sub-type of Gaucher disease which primarily affects the heart.
  • Generalized lipodystrophy with mental retardation, deafness, short stature and slender bones: A recessively inherited disorder characterized by short stature, mental retardation, deafness, slender bones and degeneration of the body's fat tissue.
  • Gilbert's Syndrome: An inherited enzyme deficiency (UDP glucoronyl transferase) which causes periodic mild jaundice, abdominal pain, weakness and fatigue.
  • Gingival fibromatosis and growth hormone deficiency: A rare syndrome characterized mainly by fibrosis of the gums and a growth hormone deficiency.
  • Glucocorticoid resistance: A rare condition where all or parts of the body are unable to respond to glucocorticoids. Symptoms depend on the level or resistance.
  • Glucose transport defect, blood-brain barrier: A rare metabolic disorder involving a deficiency of a molecule needed to transport glucose (GLUT1). The glucose is unable to be transported from the blood and into the brain and cerebrospinal fluid. Sugar transport to the brain is essential for normal development. The blood sugar level remains normal. Fasting exacerbates symptoms which can very in severity depending on the degree of deficiency.
  • Glucose-6-Phosphate Dehydrogenase Deficiency: A rare enzyme abnormality involving a deficiency of the glucose-6-phosphate dehydrogenase which causes premature destruction of red blood cells. The excessive destruction of red blood cells can be triggered by certain infections or drugs or by eating fava beans.
  • Glucose-6-phosphate deficiency: Rare genetic x-linked disease
  • Glucose-galactose malabsorption: An inherited metabolic disorder where the small intestine is unable to absorb and transport glucose and galactose that is consumed in the diet due to a lack of intestinal monosaccharidase.
  • Glucosephosphate isomerase deficiency: A rare inherited condition where a lack of the enzyme glucosephosphate isomerase causes red blood cells to be destroyed prematurely (hemolytic anemia).
  • Glucosuria: The abnormal presence of glucose in the urine
  • Glut-1 Deficiency Syndrome: A condition which is characterized by a deficiency of the GLUT-1 transported of cells
  • Glutamate decarboxylase deficiency: A rare disorder of amino acid metabolism characterized by a deficiency of the enzyme called glutamate decarboxylase which causes seizures that will only respond to pyridoxine (vitamin B6).
  • Glutamate-cysteine ligase deficiency: A very rare condition characterized by an enzyme deficiency which leads primarily to hemolytic anemia which is usually quite mild. Care must be taken to avoid medications which can lead to a hemolytic crisis.
  • Glutamine deficiency, congenital: A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in infant death within weeks of birth.
  • Glutaric Acidemia Type I: A condition which results in an inability to process the amino acids lysine, hydroxylysine and tryptophan
  • Glutaric Acidemia Type II: A condition which is characterized by an inability of the body to use fats and proteins of the body for energy
  • Glutaric Aciduria, neonatal form of type II A: A more serious neonatal form of glutaricaciduria where there is excessive blood and urine levels of glutaric acid and congenital anomalies may be present.
  • Glutaric aciduria 1: A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these metabolites build up in the body and cause neurological problems. Symptoms often develop following an acute infection or fasting. The severity of the condition is highly variable from development of neurological symptoms during infancy to asymptomatic adults. The degree of enzyme deficiency will usually determine the severity.
  • Glutaric aciduria 2: A metabolic disorder involving an enzyme deficiency - electron transfer flavoprotein ubiquinone oxydoreductase. The severity of symptoms depends on the level of deficiency. The infant onset form is the most severe and often results in death. Severe cases usually develop during childhood or infancy and usually involve metabolic acidosis and its associated symptoms. Milder cases may simply present with muscle weakness initially that develops in adulthood. Some cases may involve additional symptoms such as heart, liver and kidney problems, facial anomalies and genital abnormalities.
  • Glutaric aciduria type II: A rare disorder of amino acid metabolism characterized by a defect in the enzyme ETF (electron transfer flavenoid) or ETF dehydrogenase. The condition causes variable symptoms.
  • Glutaricaciduria 2B: A milder, later-onset form of glutaricaciduria where there is excessive blood and urine levels of glutaric acid due to the body's impaired ability to metabolize protein and fat into energy.
  • Glutaricaciduria I: A rare inherited enzyme deficiency disorder where deficiency of the glutaryl-CoA dehydrogenase enzyme results in dystonia, dyskinesia and sometimes mental retardation.
  • Glutaricaciduria type 1: A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these metabolites build up in the body and cause neurological problems. Symptoms often develop following an acute infection or fasting. The severity of the condition is highly variable from development of neurological symptoms during infancy to asymptomatic adults. The degree of enzyme deficiency will usually determine the severity.
  • Glutaricaciduria type 3: A very rare inherited metabolic disorder involving a deficiency of the glutaryl-CoA oxidase enzyme. The disorder is severe with death occurring during infancy or soon after birth.
  • Glutaryl-CoA dehydrogenase deficiency: A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these metabolites build up in the body and cause neurological problems. Symptoms often develop following an acute infection or fasting. The severity of the condition is highly variable from development of neurological symptoms during infancy to asymptomatic adults. The degree of enzyme deficiency will usually determine the severity.
  • Glutathione Synthetase Deficiency: An inborn error of metabolism where insufficient glutathione is produced. Glutathione is an antioxidant which helps destroy unstable molecules that can cause damage to cells and helps develop certain cell components. The condition is due to insufficient glutathione synthetase enzyme. The condition may range from mild, resulting in excessive destruction of red blood cells, to severe which includes neurological symptoms.
  • Glutathione synthetase deficiency, intermediate: An inborn error of metabolism where insufficient glutathione is produced. Glutathione is an antioxidant which helps destroy unstable molecules that can cause damage to cells and helps develop certain cell components. The condition is due to insufficient glutathione synthetase enzyme. The condition may range from mild, resulting in excessive destruction of red blood cells, to severe which includes neurological symptoms.
  • Glutathione synthetase deficiency, mild: An inborn error of metabolism where insufficient glutathione is produced. Glutathione is an antioxidant which helps destroy unstable molecules that can cause damage to cells and helps develop certain cell components. The condition is due to insufficient glutathione synthetase enzyme. The condition may range from mild, resulting in excessive destruction of red blood cells, to severe which includes neurological symptoms.
  • Glutathione synthetase deficiency, severe: An inborn error of metabolism where insufficient glutathione is produced. Glutathione is an antioxidant which helps destroy unstable molecules that can cause damage to cells and helps develop certain cell components. The condition is due to insufficient glutathione synthetase enzyme. The condition may range from mild, resulting in excessive destruction of red blood cells, to severe which includes neurological symptoms.
  • Glutathionuria: A very rare inborn error of metabolism where insufficient gamma-glutamyl transpepidase causes excess glutathione levels in the body.
  • Glyceraldehyde-3-phosphate dehydrogenase deficiency: A rare genetic syndrome characterized by a deficiency of an enzyme (Glyceraldehyde-3-phosphate dehydrogenase) which is involved in breaking down carbohydrates consumed in the diet in order to produce energy.
  • Glycine encephalopathy, atypical mild form: A rare disorder of amino acid metabolism where glycine are unable to be metabolized properly due to defects in the glycine cleavage system. The atypical mild form tends to be quite mild and can be difficult to diagnose due to the nonspecific symptoms.
  • Glycine encephalopathy, classical neonatal early-onset form: A rare disorder of amino acid metabolism where glycine are unable to be metabolized properly due to defects in the glycine cleavage system. The early onset classical neonatal form usually starts after a period of normal development during the first 6 months of life.
  • Glycine encephalopathy, classical neonatal form: A rare disorder of amino acid metabolism where glycine are unable to be metabolized properly due to defects in the glycine cleavage system.
  • Glycine encephalopathy, classical neonatal late-onset form: A rare disorder of amino acid metabolism where glycine are unable to be metabolized properly due to defects in the glycine cleavage system. The late onset classical neonatal form usually starts during childhood.
  • Glycine encephalopathy, transient neontal form: A rare disorder of amino acid metabolism where glycine are unable to be metabolized properly due to defects in the glycine cleavage system. The transient neonatal form is present at birth but tends to normalize within a few months.
  • Glycine synthase deficiency: A rare genetic disorder characterized by high blood glycine levels which is toxic to the body. The severity of the condition varies according to the degree of deficiency and age of onset. The classical neonatal form is generally quite severe, the atypical mild form which generally includes symptoms such as aggressiveness, behavioral problems and speech problems. The transient neonatal form involves high blood glycine levels at birth which then returns to normal within a couple of months - there was no neurological or developmental impairment.
  • Glycine synthase deficiency, type 1: A rare genetic disorder characterized by high blood glycine levels. It is caused by a defect in the P protein (pyridoxal phosphate-dependent glycine decarboxylase) in the energy creating center of cells (mitochondria).
  • Glycine synthase deficiency, type 2: A rare genetic disorder characterized by high blood glycine levels. It is caused by a defect in the T protein (tetrahydrofolate-requiring enzyme) in the energy creating center of cells (mitochondria).
  • Glycogen Storage Disease IIb -- formerly: A rare inherited disorder characterized by severe heart problems, varying degrees of muscle weakness and often mental retardation. Other symptoms such as mental retardation may also occur. The genetic anomaly manifests as a deficiency of a protein called LAMP-2 (Lysosomal-Associated Membrane Protein 2) which affects lysosomes. The condition is now known as Danon disease.
  • Glycogen Storage Disease IXa1: Glycogen storage disease type IX is a relatively mild glycogen storage disease which involves a deficiency of the enzyme hepatic phosphorylase kinase. Thee are four subtypes of the condition, each caused by a different genetic defect which results in the enzyme deficiency. Type IXa is linked to a defect in the PHKA2 gene on chromosome Xp22.2-p22.1. It is inherited in a X-linked recessive manner which means that only males will exhibit symptoms though females may be carriers.
  • Glycogen Storage Disease IXb: Glycogen storage disease type IX is a relatively mild glycogen storage disease which involves a deficiency of the enzyme hepatic phosphorylase kinase. There are four subtypes of the condition, each caused by a different genetic defect which results in the enzyme deficiency. Type IXb is linked to a defect in the PHKG2 gene on chromosome 16q12-q13 and is inherited in a recessive manner. The metabolic anomaly results in the accumulation of glycogen in the liver and muscle.
  • Glycogen Storage Disease IXc: Glycogen storage disease type IX is a relatively mild glycogen storage disease which involves a deficiency of the enzyme hepatic phosphorylase kinase. There are four subtypes of the condition, each caused by a different genetic defect which results in the enzyme deficiency. Type IXc is linked to a defect in the PHKG2 gene on chromosome 16p12.1-p11.2 and is inherited in a recessive manner.
  • Glycogen Storage Disease Type I: An inherited metabolic disorder where a deficiency of the enzyme glucose-6-phosphatase prevents glycogen being turned into glucose leading to a buildup of glycogen in the liver and kidneys. Most problems tend to develop during adulthood.
  • Glycogen Storage Disease XIV: A rare genetic disorder where the deficiency of a chemical called phosphoglucomutase-1 results in problems with glycogen storage within the body. The main symptoms tend to revolve around muscle problems.
  • Glycogen branching deficiency: A rare metabolic disorder where an enzyme deficiency (glycogen branching enzyme) results in a harmful buildup of glycogen byproducts in the liver, muscle and even the heart in some cases. The severity of symptoms is variable depending on the degree of enzyme deficiency and how strictly treatment measures are adhered to.
  • Glycogen debranching deficiency: A rare metabolic disorder where an enzyme deficiency (amylo-1,6-glucosidase) results in a harmful buildup of glycogen byproducts in the liver, muscle and even the heart in some cases. The severity of symptoms is variable depending on the degree of enzyme deficiency and how strictly treatment measures are adhered to.
  • Glycogen storage disease type 1C: A genetic metabolic disorder involving a deficiency of the enzyme glucose-6-phosphatase (due to a defect in the microsomal phosphate) which results in the accumulation of glycogen in various tissues. G6P is stored as glycogen until the body needs to convert it to a sugar for energy. The enzyme deficiency prevents the conversion and hence low blood sugar levels result.
  • Glycogen storage disease type 1D: A genetic metabolic disorder involving a deficiency of the enzyme glucose-6-phosphatase (due to a defect in the microsomal glucose transporter) which results in the accumulation of glycogen in various tissues. G6P is stored as glycogen until the body needs to convert it to a sugar for energy. The enzyme deficiency prevents the conversion and hence low blood sugar levels result.
  • Glycogen storage disease type 2: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down.
  • Glycogen storage disease type 2B: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down. Type IIB usually starts during childhood.
  • Glycogen storage disease type 2B -- formerly: A rare inherited disorder characterized by severe heart problems, varying degrees of muscle weakness and often mental retardation. Other symptoms such as mental retardation may also occur. The genetic anomaly manifests as a deficiency of a protein called LAMP-2 (Lysosomal-Associated Membrane Protein 2) which affects lysosomes. The condition is now known as Danon disease.
  • Glycogen storage disease type 6: A rare, generally mild form of inherited glycogen storage disease where a deficiency of phosphorylase b kinase leads to hypoglycemia and accumulation of glycogen in the liver.
  • Glycogen storage disease type 6A, due to phosphorylase kinase deficiency: A rare, generally mild form of inherited glycogen storage disease where a deficiency of phosphorylase kinase leads to hypoglycemia and accumulation of glycogen in the liver. Phosphorylase kinase deficiency can cause glycogen storage disease type VIa and/or IX.
  • Glycogen storage disease type 7: An inherited metabolic disorder where there is a deficiency of phosphofructokinase-1 in the muscle and a partial deficiency in red blood cells which prevents glucose being converted to energy during exercise.
  • Glycogen storage diseases: A condition which is characterized by a defect in the ability of the body to store glycogen
  • Glycogenosis type 2: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down. The severity of the condition is variable and onset may occur during infancy, childhood or adulthood.

 

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