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Symptoms » Metabolic symptoms » Glossary
 

Glossary for Metabolic symptoms

Medical terms related to Metabolic symptoms or mentioned in this section include:

  • 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-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-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.
  • 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.
  • ACTH Deficiency: A rare endocrine disorder involving a lack of ACTH (adrenocorticotropic hormone) and low levels of cortisol and steroid hormones.
  • Abdominal symptoms: Symptoms affecting the abdomen or digestive tract
  • Abnormal sensations as in case of diabetes mellitus: altered sensations due to involvement of the posterior column
  • Absent alpha 1 band: An absence of alpha-1-antitrypsin the the body
  • Accelerated metabolism: increase in the chemical reactions that occur in living organisms in order to maintain life
  • Accumulation of adipose tissue: excess deposition of fat in the body.
  • Accumulation of cervicodorsal fat: fat accumulation in the cericodorsal region.
  • 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-Base Imbalance: A disruption to the normal acid-base equilibrium in the body. There are four main groups of disorder involving an acid-base imbalance: respiratory acidosis or alkalosis and metabolic acidosis or alkalosis. Obviously the severity of symptoms is determined by the degree of imbalance.
  • 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.
  • Acidosis: The accumulation of hydrogen ions or the depletion of the alkaline reserve in the body.
  • 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 glucose intolerance symptoms: the diagnosis of acute glucose intolerance is based on the circumstance at the time of diagnosis
  • Acute igt-like symptoms: the diagnosis of acute glucose intolerance is based on the circumstance at the time of diagnosis
  • Acute poor glucose tolerance: the diagnosis of sudden glucose intolerance is based on the circumstance at the time of diagnosis
  • Acute poor glucose tolerance in pregnancy: Acute poor glucose tolerance in pregnancy is usually detected at a routine blood test in the late 2nd trimester.
  • Acute poorly controlled diabetes symptoms: Acute poorly controlled diabetes symptoms are symptoms that occur suddenly due to poor control of blood sugar levels.
  • Acute poorly controlled diabetes symptoms in pregnancy: Acute poorly controlled diabetes symptoms in pregnancy refers to elevated blood sugar levels (causing polyuria, polydipsia etc), or low blood sugar levels (causing light-headedness etc).
  • Acute tubulointerstitial nephritis and uveitis syndrome: The association of a sudden kidney disorder with eye inflammation. Autoimmune processes are believed to be involved.
  • 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.
  • Adenoma, Islet Cell: A pancreatic tumor which may be benign or malignant. Symptoms may vary depending on the location and size of the tumor as well as whether the tumor secretes hormones or not. For example, the tumor may block the biliary duct.
  • Adrenal Cortex Diseases: Diseases of the adrenal cortex. Examples includes Addison's disease, Cushing's syndrome and adrenal fatigue.
  • Adrenal hypoplasia congenital, X-linked: A genetic disorder which affects the body tissues that produce hormones. It is characterized by underdeveloped adrenal glands which results adrenal insufficiency and hypogonadotrophic hypogonadism.
  • Adverse reaction to chemical -- 1,1-Dichloroethene: 1,1-Dichloroethene is a chemical used in packaging, food wraps, carpet backing, adhesives and steel pipe coating. Some people can suffer an adverse reaction to the chemical. The severity of symptoms varies amongst patients.
  • Adverse reaction to chemical -- 1,2-Dibromoethane: 1,2-Dibromoethane is a chemical used in gasoline, soil fumigants, fire extinguishers, flue gases and mechanical gauge fluid. Excessive exposure to this chemical can cause serious symptoms. The severity of symptoms varies amongst patients.
  • Alsing syndrome: A rare syndrome characterized mainly by kidney problems, skeletal abnormalities and a hole in the coloboma of the eye.
  • Altered vital signs in case of diabetic ketoacidosis: Altered vital signs in case of diabetic ketoacidosis is a change in the pulse, breathing, blood pressure and/or body temperature as a result of diabetic ketoacidosis.
  • Amitriptyline toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Amlodipine toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Amoxapine toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Anaerobic metabolism: An anaerobic infection is an infection caused by bacteria (called anaerobes) which cannot grow in the presence of oxygen
  • Analgesic nephropathy syndrome: Kidney damage caused by excessive use of pain-killing drugs. Aspirin and phenacetin mixtures are the most common causes.
  • Anophthalmia -- hypothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
  • Anophthalmia -- hypyothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
  • Aortic arch interruption: A rare genetic birth defect where a portion of the aortic arch is missing or discontinued which severely impairs the flow of oxygenated blood to the lower body.
  • Apparent Mineralocorticoid Excess, type 2: A form of inherited high blood pressure that starts during early childhood. The condition is caused by a genetic defect which results in an inborn error of metabolism of peripheral cortisol. Type 2 causes similar symptoms to type 1 but the urinary steroid levels are different.
  • Apparent mineralocorticoid excess: A form of inherited high blood pressure that starts during early childhood. The condition results from a genetic defect which causes impaired metabolism of cortisol.
  • Aristolochic Acid poisoning: Aristolochic acid is derived from a forest herb from the Aristocholochia family. It is often used in herbal preparations such as Aristolochia Fang Ch, Bragantia and Asarum. It is usually used in herbal preparations to promote weight loss. The substance is believed to cause kidney failure and urinary tract cancer.
  • Asphyxia neonatorum: Respiratory failure in a newborn.
  • Autoimmune Diabetes Insipidus: Autoimmune disorder leading to diabetes insipidus.
  • Autoimmune Hypophysitis: Inflammation of part of the pituitary gland due to an autoimmune process resulting in impaired pituitary hormone production. The range and severity of symptoms is variable depending on the degree of damage to the pituitary gland.
  • Bartter Syndrome: A rare genetic disorder of kidney metabolism characterized by reduced blood acidity and low potassium levels.
  • Bicarbonate deficit: A condition caused by excessive organic or inorganic acids in the body. The excess may be due to abnormally high acid production such as occurs during fever and starvation or may occur as a result of excessive acid intake, acid retention or loss of bases.
  • 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.
  • Blood symptoms: Symptoms affecting the blood and its blood cells.
  • Bobble-head doll syndrome: A rare condition where a child's head bobs up and down continuously due to either fluid on the brain or a large cyst in the third ventricle of the brain.
  • Boichis syndrome: A rare syndrome involving nephronophthisis (progressive destruction of kidney tissue) from birth which leads to kidney failure and liver fibrosis.
  • Cardiomyopathy -- hypotonia -- lactic acidosis: A rare syndrome characterized by heart muscle disease, reduced muscle tone and lactic acidosis from birth.
  • 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 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.
  • Cataract and cardiomyopathy: A rare syndrome characterized by the association of congenital cataracts, heart muscle disease, lactic acidosis and skeletal muscle disease. The disorder involves the abnormal storage of lipids and glycogen in the skeletal and heart muscles. The cataracts progress rapidly and require surgery. The severity of the disorder ranges from stillbirth to survival into the fourth decade.
  • Cataract in diabetes:
  • Chemical poisoning -- 1,3-Dichloropropene: 1,3-Dichloropropene is a chemical used in solvents and soil fumigants for nematode control. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- 4-Aminopyridine: 4-Aminopyridine is a pesticide used mainly to control bird pests. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Agrocide: Agrocide is a chemical insecticide used mainly to control scabies or lice as well as other agricultural insect pests. The insecticide is considered moderately toxic to humans and acts as a central nervous system stimulant. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Agronexit: Agronexit is a chemical insecticide used mainly as an agricultural insecticide. The insecticide is considered moderately toxic to humans and acts as a central nervous system stimulant. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Aldicarb: Aldicarb is a carbamate pesticide used mainly as an insecticide, nematicide and acaricide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Amitraz: Amitraz is a chemical used mainly as a topical parasitic preventative in livestock and fruit trees. It is also used as an insect repellant and a prevention of mite infestation. The chemical is readily absorbed through the skin. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Ammonium Bifluoride: Ammonium Bifluoride is a chemical used wheel cleaners, herbicides and in the manufacture of magnesium. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Ammonium Chloride: Ammonium Chloride is a chemical used as a medical agent for conditions such as metabolic acidosis, in deodorizer cleaners and also used in industry in fertilizers, electroplating, galvanizing, soldering and in deodorizer cleaners. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Aparasin: Aparasin Aparasin. The insecticide is considered moderately toxic to humans and acts as a central nervous system stimulant. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Aphtiria: Aphtiria is a chemical insecticide used mainly to control scabies or lice. The insecticide is considered moderately toxic to humans and acts as a central nervous system stimulant. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Ben-Hex: Ben-Hex is a chemical insecticide used mainly to control scabies. The insecticide is considered moderately toxic to humans and acts as a central nervous system stimulant. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Benhexol: Benhexol is a chemical insecticide used mainly to control scabies or lice. The insecticide is considered moderately toxic to humans and acts as a central nervous system stimulant. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Benzene hexachloride: Benzene hexachloride is a chemical insecticide. The insecticide is considered moderately toxic to humans and acts as a central nervous system stimulant. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Bexol: Bexol is a chemical insecticide used mainly to control scabies or lice. The insecticide is considered moderately toxic to humans and acts as a central nervous system stimulant. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Borates: Borate is a chemical used in a wide variety of products - herbicides, paints, insecticides, rodenticides and various personal products such as skin creams, toothpastes and powders. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Bromophos: Bromophos is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Cadmium: Cadmium is a chemical used mainly in batteries, solder, amalgams, cigarettes, PVC pigments and phosphate fertilizer production. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Carbaryl: Carbaryl is a carbamate pesticide used mainly as an insecticide and acaricide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Chloralose: Chloralose is a chemical used mainly in poisons for rodents and crows . Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Chloresene: Chloresene is a chemical insecticide used mainly to control scabies or lice. The insecticide is considered moderately toxic to humans and acts as a central nervous system stimulant. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Chlorfenvinphos: Chlorfenvinphos is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Chlorpyrifos: Chlorpyrifos is a chemical used mainly in as an insecticide. Ingestion and other exposures to the chemical can cause various symptoms. The chemical may be absorbed readily through the skin. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Coumaphos: Coumaphos is used as a pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The chemical may be absorbed readily through the skin. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Demeton-S-methyl: Demeton-S-methyl is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Diazinon: Diazinon is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Dichlorvos: Dichlorvos is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Dicrotophos: Dicrotophos is a toxic insecticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Dinitrophenol: Dinitrophenol is a chemical that has various applications: herbicide, pesticide, fungicide, acaricide, manufacture of dyes and wood preservative. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Dioxathion: Dioxathion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Disulfoton: Disulfoton is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Ethion: Ethion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Ethylene Glycol: Ethylene Glycol is a chemical used mainly in antifreeze, coolants and as a solvent. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. Symptoms tend to occur in three phases: the first 12 hours involves inebriation, seizuresand brain swelling; the second and third day involves deterioration of lung and heart function and the third stage involves kidney damage and possibly failure. Death can occur during any of the stages.
  • Chemical poisoning -- Fensulfothion: Fensulfothion is a chemical pesticide used as an insecticide and nematicide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Fenthion: Fenthion is a chemical pesticide used as an insecticide and avicide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Glycol Ether: Glycol Ether is a chemical used mainly in nail polish removers, products to treat leather, anti-icing agents and as an industrial solvent. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Glyphosate: Glyphosate is a chemical used mainly in herbicides. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- HCH-gamma: HCH-gamma is an insecticide which is considered moderately toxic to humans and acts as a central nervous system stimulant. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Hexachlorocyclohexane (gamma): Hexachlorocyclohexane (gamma) is an insecticide which is considered moderately toxic to humans and acts as a central nervous system stimulant. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Imazapyr: Imazapyr is a chemical used mainly in herbicides. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Lindane: Lindane is a chemical used mainly as an agricultural insecticide but also as a treatment of lice and scabies infestations. The insecticide is considered moderately toxic to humans and acts as a central nervous system stimulant. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Malathion: Malathion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Metaldehyde: Metaldehyde is a chemical used mainly as a molluscicide, in heating fuel and in fire lighters. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Methanol: Methanol is a chemical used mainly in fuel, paint removers, solvent, antifreeze and in the production process of many other products. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Methidathion: Methidathion is a chemical insecticide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Methiocarb: Methiocarb is a toxic pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Methomyl: Methomyl is a carbamate pesticide used mainly as an insecticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Parathion: Parathion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Phenol: Phenol is a chemical used mainly in the production of fertilizer, explosives, rubber, paint, paint remover, perfumes, asbestos products, wood preservatives, resins, textiles, pharmaceuticals and drugs. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Phosdrin: Phosdrin is a toxic pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Polyethylene Glycol -- Low Molecular Weight: Low molecular weight polyethylene glycol is a chemical used mainly in hair products, cosmetics, topical medications and in Lava lamps. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Profenofos: Profenofos is a toxic pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Propoxur: Propoxur is a carbamate pesticide used mainly as an insecticide and acaricide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Pyrimidifen: Pyrimidifen is a chemical used mainly as an insecticide and acaricide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Terbufos: Terbufos is a chemical pesticide used as an insecticide and nematicide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Tetraethyl Pyrophosphate: Tetraethyl Pyrophosphate is a toxic pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Toluene: Toluene is a chemical used mainly in pesticides, degreasers, glues and pain removers. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Triethylene Glycol: Triethylene Glycol is a chemical used mainly in brake fluid. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Tungsten: Tungsten is an element used mainly in light bulb filaments, X-ray tubes, electrodes, superalloys, heating elements and various other high temperature uses. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- gamma-HccH: Gamma-HccH is an insecticide which is considered moderately toxic to humans and acts as a central nervous system stimulant. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chromosome 11, Partial Monosomy 11q: A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted.
  • Chromosome 15q, deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 15.
  • Chronic glucose intolerance symptoms: the diagnosis of chronic glucose intolerance is based on the circumstance at the time of diagnosis
  • Chronic igt-like symptoms: the diagnosis of glucose intolerance is based on the circumstance at the time of diagnosis
  • Chronic poor glucose tolerance: the diagnosis of chronic glucose intolerance is based on the circumstance at the time of diagnosis
  • Chronic poorly controlled diabetes symptoms: Chronic poorly controlled diabetes symptoms are symptoms of diabetes that have not been treated or addressed adequately.
  • Clomipramine Toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • 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.
  • 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 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 diaphragmatic hernia: A rare condition where an infant is born with an opening in the diaphragm which allows some of the abdominal organs to move into the chest cavity and cause problems.
  • 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.
  • Conn's adenoma: An uncommon (but possible highly underdiagnosed) condition characterized by the excessive production of a hormone called aldosterone by the adrenal gland. The condition may result from the presence of an adrenal adenoma. The severity of the condition is variable with some patients simply suffering high blood pressure and no other symptoms. Due to the high degree of variation in presenting symptoms, the condition may be frequently underdiagnosed or misdiagnosed.
  • Conn's syndrome: An adrenal gland disorder where excess aldosterone hormone is produced resulting in symptoms such as headache, fatigue, nocturia and increased urine production. Also called primary hyperaldosteronism.
  • Conn-Louis Carcinoma: An uncommon (but possible highly underdiagnosed) condition characterized by the excessive production of a hormone called aldosterone by the adrenal gland. The condition results from the presence of an adrenal carcinoma. The severity of the condition is variable with some patients simply suffering high blood pressure and no other symptoms. Due to the high degree of variation in presenting symptoms, the condition may be frequently underdiagnosed or misdiagnosed.
  • Copperhead snake poisoning: The Copperhead snake is a poisonous snake found mainly in parts of North America. The toxicity of the poison varies among species but some species are extremely poisonous and readily result in death if the patient is not treated.
  • Crotalidae snake poisoning: Crotalids are snakes from the Crotalidae family. This group of snakes includes rattlesnakes which are usually found in America. These snakes are easily identified by the "rattle" at the tip of their tails. The toxicity of the venom can vary among species but some can result in death if prompt treatment is not given.
  • Cushing syndrome, familial: A hormonal disorder caused by high levels of the cortisol hormone due to the abnormal development of the adrenal gland.
  • Cushing's disease: A condition of hyperadrenocorticism which is secondary to excessive pituitary secretion of ACTH. Cushing's disease is different to Cushing's syndrome which refers to the effects of glucocorticoid excess from any cause.
  • Cushing-like symptoms: Symptoms similar to those of Cushing's disease
  • Cystinosis: A rare biochemical disorder involving the accumulation of a chemical called cystine in various parts of the body which can cause harmful effects.
  • DEND syndrome: An inherited disorder characterized by developmental delay, epilepsy and diabetes.
  • DIDMOAD Syndrome, Mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
  • DKA: A metabolic acidosis that results from the accumulation of ketones when diabetes mellitus is poorly controlled
  • 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 bicarbonate: A decrease in the amount of bicarbonate in the blood
  • Decreased serum phosphate: A decrease in the level of phosphate in the serum plasma
  • Decreased serum urea: A decreased amount of urea in the blood plasma
  • Decreased sugar tolerance in diabetics: A decrease in the bodies ability in diabetes to lower the blood sugar 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.
  • 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.
  • Desipramine toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Developmental Lactase Deficiency: This form of lactase deficiency occurs in premature infants. Lactase enzyme activity usually develops late in pregnancy so a preterm infant will not yet have developed this enzyme function. The greater the degree of prematurity, the greater the reduction in lactase activity.
  • DiGeorge syndrome: 22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid glands which results in lowered immunity low blood calcium levels respectively. Another primary feature is heart defects. Various other variable features are also present. It is not uncommon for patients to have more than one of the 22q11.2 deletion syndrome subtypes which can make diagnosis confusing - other subtypes include Sphrintzen syndrome, Caylor cardiofacial syndrome and CATCH 22.
  • Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 1: Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1 diabetes. The genetic anomaly alone is not enough to cause the disease but simply increases the risk. Type 1 is linked to a defect on chromosome 6p21.
  • Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 10: Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1 diabetes. The genetic anomaly alone is not enough to cause the disease but simply increases the risk. Type 10 is linked to a defect on chromosome 10p15.1.
  • Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 11: Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1 diabetes. The genetic anomaly alone is not enough to cause the disease but simply increases the risk. Type 11 is linked to a defect on chromosome 14q24.3-q31.
  • Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 12: Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1 diabetes. The genetic anomaly alone is not enough to cause the disease but simply increases the risk. Type 12 is linked to a defect on chromosome 2q33.
  • Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 13: Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1 diabetes. The genetic anomaly alone is not enough to cause the disease but simply increases the risk. Type 13 is linked to a defect on chromosome 2q34.
  • Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 15: Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1 diabetes. The genetic anomaly alone is not enough to cause the disease but simply increases the risk. Type 15 is linked to a defect on chromosome 6q21.
  • Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 17: Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1 diabetes. The genetic anomaly alone is not enough to cause the disease but simply increases the risk. Type 17 is linked to a defect on chromosome 10q25.
  • Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 18: Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1 diabetes. The genetic anomaly alone is not enough to cause the disease but simply increases the risk. Type 18 is linked to a defect on chromosome 5q31.1-q33.1.
  • Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 19: Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1 diabetes. The genetic anomaly alone is not enough to cause the disease but simply increases the risk. Type 19 is linked to a defect on chromosome 2q24.3.
  • Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 2: Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1 diabetes. The genetic anomaly alone is not enough to cause the disease but simply increases the risk. Type 2 is linked to a defect on chromosome 11p15.5.
  • Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 20: Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1 diabetes. The genetic anomaly alone is not enough to cause the disease but simply increases the risk. Type 20 is linked to a defect on chromosome 12q24.
  • Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 21: Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1 diabetes. The genetic anomaly alone is not enough to cause the disease but simply increases the risk. Type 21 is linked to a defect on chromosome 6q25.
  • Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 22: Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1 diabetes. The genetic anomaly alone is not enough to cause the disease but simply increases the risk. Type 22 is linked to a defect on chromosome 3p21.
  • Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 23: Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1 diabetes. The genetic anomaly alone is not enough to cause the disease but simply increases the risk. Type 23 is linked to a defect on chromosome 4q27.
  • Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 24: Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1 diabetes. The genetic anomaly alone is not enough to cause the disease but simply increases the risk. Type 24 is linked to a defect on chromosome 10q23.31.
  • Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 3: Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1 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 15q26.
  • Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 4: Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1 diabetes. The genetic anomaly alone is not enough to cause the disease but simply increases the risk. Type 4 is linked to a defect on chromosome 11q13.
  • Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 5: Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1 diabetes. The genetic anomaly alone is not enough to cause the disease but simply increases the risk. Type 5 is linked to a defect on chromosome 6q25.
  • Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 6: Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1 diabetes. The genetic anomaly alone is not enough to cause the disease but simply increases the risk. Type 6 is linked to a defect on chromosome 18q21.
  • Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 7: Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1 diabetes. The genetic anomaly alone is not enough to cause the disease but simply increases the risk. Type 7 is linked to a defect on chromosome 2q31.
  • Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 8: Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1 diabetes. The genetic anomaly alone is not enough to cause the disease but simply increases the risk. Type 81 is linked to a defect on chromosome 6q25-q27.
  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility to, 1: 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 1 is linked to a defect on chromosome 2q37.3.
  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility to, 2: 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 2 is linked to a defect on chromosome 12q24.2.
  • 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, Noninsulin-Dependent, Susceptibility to, 4: 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 4 is linked to a defect on chromosome 5q34-q35.2.
  • Diabetes insipidus: A condition which is characterized by polyuria causing dehydration and resulting in great thirst
  • Diabetes insipidus, diabetes mellitus, optic atrophy: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
  • Diabetes insipidus, diabetes mellitus, optic atrophy, deafness, mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
  • 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.
  • Diabetes-like symptoms: Symptoms similar to those of diabetes
  • Diabetic ketoacidosis: A metabolic acidosis that results from the accumulation of ketones when diabetes mellitus is poorly controlled
  • Diabetic neuropathy: nerve damage which maybe motor, sensory and autonomic
  • Diabetic retinopathy: A complication of diabetes where the microvasculature of the eye is effected resulting in sight loss
  • Diabetic skin changes: cutaneous manifestations of diabetes mellitus
  • Diarrhea: Loose, soft, or watery stool.
  • Diarrhea 2, with Microvillous Atrophy: A rare congenital condition characterized by diarrhea resulting form a defect in small intestine.
  • Doxepin toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Duodenal atresia: A rare birth defect where a portion of the small intestine is absent or completely closed off and the digestive products cannot pass through. It is usually associated with other birth defects.
  • Duodenal atresia tetralogy of Fallot: A rare birth defect characterized by a heart defect and an intestinal malformation where the duodenum is absent or closed off which prevents digested material passing through.
  • Electrocution: Any injury caused by electricity
  • 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.
  • Elevated creatinine kinase: An increase in the amount of creatinine kinase in the blood system
  • Elevated faecal elastase: An increase in the amount of elastase in the faeces
  • Elevated lipase: Increased lipase indicates there is an increased amount of the enzyme lipase in the blood
  • Endomyocardial fibroelastosis: A rare heart malformation involving an abnormal thickening of the part of the heart muscle called the endocardium which affects the heart's function. Death is common in infancy and during early childhood.
  • Episodic Diaphoresis as in case of diabetes mellitus: excessive sweating commonly associated with hypoglycemia and shock
  • Erdheim-Chester Disease: A condition which is defined as a non langerhans cell histiocytosis
  • Erdheim-Chester syndrome: A very rare lipid storage disorder involving lipid deposits in various organs and hardening of the ends of long bones which affects the growth of the bone. The severity of the condition is variable.
  • Ethylene glycol poisoning: Excessive ingestion of ethylene glycol. Ethylene glycol can be found in antifreeze.
  • 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 hypopituitarism: Impaired pituitary gland hormone-producing activity that tends to run in families. The failure of the pituitary gland in turn affects other hormone-producing glands which rely on the hormones from the pituitary gland for their activity. Symptoms are determined by the degree and type of hormone deficiency involved.
  • Fanconi-Albertini-Zellweger syndrome: A rare syndrome characterized mainly by congenital heart defect, brain abnormalities, unusual face and metabolic acidosis.
  • Felodipine toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • 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.
  • 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.
  • 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.
  • Fructosuria: A rare harmless asymptomatic condition caused by a lack of the liver enzyme called fructokinase which is needed to turn fructose into glycogen.
  • Functioning pancreatic endocrine tumor: Tumors that develop in the pancreas and cause excessive secretion of one or more pancreatic hormones such as insulin, somatostatin, glucagons, gastrin, ACTH (corticosteroids) and vasoactive intestinal peptidase.
  • Funnel Web spider poisoning: The funnel web spider is a poisonous spider found mainly in Australia and America. The venom is toxic to the nervous system. There are two phases of poisoning - the first phase starts soon after envenomation and may result in death in severe cases. The second phase occurs one or two hours after envenomation where patients may recover somewhat but symptoms such as apnea and low blood pressure may develop.
  • Gestational diabetes: The occurrence of diabetes that's onset occurs during pregnancy
  • 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.
  • 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 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.
  • 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.
  • 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, 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.
  • 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 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 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 diseases: A condition which is characterized by a defect in the ability of the body to store glycogen
  • Glycosuria: High levels of sugars in the urine
  • Glycosuria in pregnancy: Glycosuria in pregnancy refers to the presence of glucose (sugar) in the urine. In pregnancy it commonly occurs in the absence of diabetes (gestational or pre-existing) but is also common in those with diabetes.
  • Gradual onset of poor glucose tolerance: Gradual onset of poor glucose tolerance is the slow development of an inability to metabolize glucose properly.
  • HADH 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.
  • HMG-CoA lyase deficiency: A rare inherited metabolic disorder where deficiency of a particular enzyme impairs the processing of amino acids in food to create energy and causes various symptoms. Stresses on the body such as infection, fasting and heavy exercise can trigger an episode.
  • Hand-Schuller-Christian Syndrome: A group of blood disorder involving excess production of histiocytes (type of immune cell) throughout the body. Accumulation of histiocytes results in non-cancerous growths which can damage organs and other body tissues such as bones. Symptom vary hugely and depend on location and size of tumor growths.
  • Head symptoms: Symptoms affecting the head or brain
  • Herbal Agent adverse reaction -- Clove: Clove can be used as a herbal agent that can be used topically for tooth pain or as a local anesthetic in dentistry. The herbal agent can cause an adverse reaction or even anaphylaxis in some people.
  • Herbal Agent adverse reaction -- Ginseng: Ginseng can be used as a herbal agent, usually in the form of a tea, to help combat stress. Some people may develop an adverse reaction to Ginseng.
  • Herbal Agent adverse reaction -- Margosa oil: Margosa oil can be used as a herbal agent to treat parasitic infestations. The herbal agent contains various chemicals which can cause an adverse reaction in some people.
  • Herbal Agent adverse reaction -- Senna: Senna can be used to treat constipation or to prepare the colon for a rectal examination. The herbal agent can cause an adverse reaction in some people.
  • Herbal Agent overdose -- Cleistanthus Collinus: Cleistanthus collinus can be used as a herbal agent which is very toxic and has been used to commit suicide or murder. The herbal agent contains toxic chemicals such as dyphyllin, collinusin and glycosides.
  • Herbal Agent overdose -- Germanium: Germanium is used as a health food supplement mainly in Japan but it can cause various problems if too much is taken. Chronic use and the ingestion of a large amount at one time can result in overdose symptoms.
  • Herbal Agent overdose -- Ginseng: Ginseng can be used as a herbal agent, usually in the form of a tea, to help combat stress. Excessive doses of ginseng can cause overdose symptoms - 3 to 15 g per day for a number of years can cause overdose symptoms.
  • Hereditary carnitine deficiency: An inherited deficiency of carnitine resulting primarily in muscle problems. Severe symptoms can be triggered by periods of illness or fasting.
  • Hereditary carnitine deficiency syndrome: An inherited deficiency of carnitine resulting primarily in muscle weakness. The carnitine deficiency may be due to excessive loss of insufficient production.
  • Hereditary carnitine deficiency syndrome, systemic: An inherited deficiency of carnitine in tissues other than the muscles resulting primarily in muscle weakness.
  • High HBA1c: Increased levels are an indication of poor diabetic control and increased risk of diabetic complications
  • High blood sugar: An increase in the glucose levels of the blood above normal
  • High blood sugar in pregnancy: High blood sugar in pregnancy refers to abnormally high blood sugar levels that occur during pregnancy
  • Histidinuria, renal tubular defect: A very rare syndrome where a kidney defect causes high levels of histidine in the urine.
  • Holocarboxylase synthetase deficiency: An inherited disorder where the enzymes that use the vitamin biotin are defective.
  • Hydroxyacyl-coa dehydrogenase, type 2, 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. Some cases simply involve developmental delay.
  • Hyperinsulinemic hypoglycemia, familial, 1: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF1 is due to a mutation in the gene for SUR1 (surfonlyurea receptor 1) on chromosome 11p15.1.
  • Hyperinsulinemic hypoglycemia, familial, 2: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF2 is due to a mutation in the gene for Kir6.2 on chromosome 11p15.1.
  • Hyperinsulinemic hypoglycemia, familial, 3: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF3 is due to a mutation in the gene for glucokinase on chromosome 7p15-p13.
  • Hyperinsulinemic hypoglycemia, familial, 4: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF4 is due to a mutation in the gene for 3-hydroxyacyl-CoA dehydrogenase on chromosome 4q22-q26.
  • Hyperinsulinemic hypoglycemia, familial, 5: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF5 is due to a mutation in the insulin receptor gene on chromosome 19p13.2.
  • Hyperinsulinemic hypoglycemia, familial, 6: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF6 is due to a mutation in the GLUD1 gene on chromosome 10q23.3.
  • Hyperinsulinemic hypoglycemia, familial, 7: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. In HHF7 strenuous exercise causes high insulin and low sugar levels.
  • Hyperinsulinism due to glucokinase deficiency: An inherited condition characterized by high insulin levels due to deficiency of glucokinase. The lack of glucokinase prevents the pancreas from detecting low blood sugar so insulin continues to be secreted which keeps the blood sugar level low. Severe symptoms such as seizures and coma can result if sugar levels drop too low.
  • Hyperinsulinism due to glutamodehydrogenase deficiency: An inherited condition characterized by high insulin and ammonia levels in the blood due to an enzyme deficiency (glutamate dehydrogenase). Episodes of low blood sugar can be triggered by fasting for too long or eating a protein meal. Severe symptoms such as seizures and coma can result if sugar levels drop too low.
  • Hyperinsulinism in children, congenital: A rare inherited condition characterized by high insulin levels which cause low blood sugar. Severe symptoms such as seizures and coma can result if sugar levels drop too low.
  • Hyperosmolar hyperglycemic nonketotic syndrome: A form of diabetic coma seen in type 2 diabetes mellitus
  • Hyperphosphataemia: An increased level of phosphate in the circulation above that which is considered normal
  • Hyperprolinemia type 2: 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.
  • Hypocalcemia: Low blood calcium levels
  • Hypokalemia: Abnormally low levels of potassium in the blood.
  • Hypoketonemic hypoglycemia: A rare condition usually caused by fatty oxidation defects and involves low blood sugar and low blood ketone level.
  • Hypomagnesemia caused by selective magnesium malabsorption: A rare genetic disorder which causes low blood magnesium and results in low calcium levels also. Death can occur if left untreated. The condition is believed to results from abnormal intestinal absorption of magnesium rather than the excessive secretion of magnesium via malfunctioning kidneys.
  • Hypoparathyroidism: causesd by lack of PTH
  • Hypoparathyroidism familial isolated: A rare familial condition involving low levels of parathyroid hormone which upsets the body's ability to regulate calcium and phosphate. The severity of symptoms is determined by the how low the parathyroid hormone level is.
  • Hypoparathyroidism, autoimmune: A rare autoimmune condition characterized by the inflammation of the parathyroid glands and resulting in a deficiency of parathyroid hormones (parathormone). Parathormone helps controls calcium and phosphorus levels in the body. Symptoms become progressively worse as calcium and phosphorus levels become increasingly imbalanced.
  • Hypopituitarism -- micropenis -- cleft lip palate: A very rare syndrome characterized mainly by low pituitary hormone level, small penis and a cleft lip and palate.
  • Hypoplastic Left Heart Syndrome: A rare condition where an infant is born with an underdeveloped left side of the heart which prevents the heart from pumping oxygenated blood efficiently to various parts of the body.
  • Ichthyosis and male hypogonadism: A very rare syndrome characterized mainly by scaly skin and insufficient hormone production by the male gonads.
  • Ichthyosis male hypogonadism: A very rare syndrome characterized mainly by scaly skin and insufficient hormone production by the male gonads.
  • Igt- like symptoms: the diagnosis of glucose intolerance is based on the circumstance at the time of diagnosis
  • Imipramine toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Inborn urea cycle disorder: A genetic disorder involving a deficiency of one of the enzymes needed in the urea cycle. The urea cycle is the process of removing ammonia from blood stream by converting it to urea and excreting it via urine. A build-up of ammonia in the blood is toxic to the body and can cause serious brain damage. The progressively severe symptoms usually become obvious within the first few weeks of birth. Nevertheless, mild or partial enzyme deficiencies may cause little or no symptoms or symptoms that don't start until later in life.
  • Increased GGT: An increase in the amount of gamma-glutamyl transpeptidase
  • Increased lactate: An increase in the amount of lactate in the body
  • Increased metabolic or heart rate and other effects: increase in the heart rate to more than 100 beats per minute
  • Increased metabolism: Increased metabolism is an increase in the body's vital chemical processes.
  • Insulin-resistance type B: A very rare syndrome where insulin resistance is associated with autoimmune disease. The disorder is caused by antibodies which attack the bodies insulin receptors.
  • Intermittent glucose intolerance symptoms: the diagnosis of intermittent glucose intolerance is based on the circumstance at the time of diagnosis
  • Intermittent igt-like symptoms: the diagnosis of intermittent glucose intolerance is based on the circumstance at the time of diagnosis
  • Intermittent poor glucose tolerance: the diagnosis of intermittent glucose intolerance is based on the circumstance at the time of diagnosis
  • Intermittent poorly controlled diabetes symptoms: Intermittent poorly controlled diabetes symptoms refers to symptoms of diabetes, such as excessive thirst and frequent urination, that occur periodically due to poor management of diabetes.
  • Interstitial nephritis: Any primary or secondary condition which affects the renal interstitial tissue
  • Iron poisoning: Excessive ingestion of iron - often occurs when children ingest adult iron tablets.
  • Isoniazid toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Isradipine toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Jacobsen syndrome: A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted.
  • Juvenile nephronophthisis: A rare inherited kidney disorder characterized by formation of cysts inside the kidney, kidney fibrosis and tubular atrophy which leads to progressive kidney failure.
  • Ketoacidosis: A condition which is characterized by acidosis and the accumulation of ketone bodies in the body
  • Ketosis: The accumulation of ketone bodies in the body
  • L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, 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.
  • LADHSC 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.
  • Lactic Acidosis, Fatal Infantile: The excessive accumulation of lactic acid in the blood which leads to metabolic acidosis.
  • Lactic acidosis: A condition which is characterized by the occurance of a metabolic acidosis due to the accumulation of lactic acid
  • Lactic acidosis congenital infantile: A rare congenital condition where an infant has high levels of lactic acid in the blood causing metabolic acidosis.
  • Lactic dehydrogenase elevation: it is an enzyme found in many body tissues such as heart, liver, kidneys, skeletal muscle, brain, red blood cells and lungs and is responsible for converting lactic acid into pyruvic acid which is an essential step in producing energy
  • Lactose intolerance: lactose intolerance is the inability to metabolize lactose, a sugar found in milk and other dairy products, because the required enzyme lactase is absent in the intestinal system or its availability is lowered
  • Langerhans Cell Histiocytosis: A condition which is characterized by proliferation of Langerhans cells
  • Leigh syndrome: A rare, progressive, neurological disorder characterized by the degeneration of the brain and impaired function of various body organs. The condition is caused by a systemic deficiency of the cytochrome C oxidase enzyme.
  • Leigh syndrome, 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.
  • Leigh syndrome, Saguenay-Lac-St. Jean type: A rare, progressive, inherited metabolic disorder where a deficiency of the enzyme cytochrome C oxidase affects skeletal muscles, connective tissue, brain and liver.
  • Leucinosis: A term used to describe high levels of leucine in the body. It is associated with a metabolic disorder called maple syrup urine disease where there is a deficiency of an enzyme needed to break down leucine so it builds up within the body.
  • Lightwood-Albright syndrome: A rare syndrome caused by kidney dysfunction.
  • Lipid storage disorders:
  • Lipoamide dehydrogenase deficiency: A very rare enzyme deficiency (dihydrolipoamide dehydrogenase) which can cause lactic acidosis. The age of onset and symptoms are variable.
  • Lipoatrophic diabetes:
  • Lipodystrophy, familial partial, type 3 (FPLD3): A rare metabolic disorder involving abnormal fat gradually disappears from the limbs, trunk and buttocks but stays the same or accumulates on areas such as the face, shoulders, neck and genitals.
  • Lipoid congenital adrenal hyperplasia: A rare form of congenital adrenal hyperplasia where the early phase of adrenal cortisol production is defective which causes mineralocorticoid deficiency. Male pseudohermaphroditism is the main characteristic of this disorder.
  • Liver failure: When the liver fails to function
  • Long-Chain Acyl-CoA Dehydrogenase Deficiency: A condition which is characterized by a deficiency in long chain acyl-CoA dehydrogenase
  • Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency: 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 (3-hydroxyacyl-coenzyme A dehydrogenase) 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.
  • Low blood sugar: A decrease in the glucose levels of the blood above normal
  • Lowe Syndrome: An X linked condition characterized by vitamin D deficiency and causing an oculocerebrorenal syndrome
  • Lowe oculocerebrorenal syndrome: A rare inherited metabolic disorder characterized primarily by eye and bone abnormalities, mental retardation and kidney problems.
  • Lutz-Richner-Landolt syndrome: A rare disorder involving kidney and biliary abnormalities.
  • M/SCHAD 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.
  • MELAS: A mitochondrial disorder characterized by stroke-like episodes, headaches, vomiting and other neurological symptoms.
  • MGA 4: MGA (methylglutaconic aciduria) is 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.
  • Magnesium deficiency: A deficiency in the magnesium stores of the body
  • Malignant hyperthermia susceptibility type 1: A rare, potential lethal disorder that is triggered by general anesthetic or certain muscle relaxant drugs. On exposure to the drugs, muscle metabolism is severely disrupted and the body is unable to control its temperature which can lead to death without treatment. The chromosomal defect for type 1 is located at 19q13.1.
  • Malignant hyperthermia susceptibility type 2: A rare, potential lethal disorder that is triggered by general anesthetic or certain muscle relaxant drugs. On exposure to the drugs, muscle metabolism is severely disrupted and the body is unable to control its temperature which can lead to death without treatment. The chromosomal defect for type 2 is located at 17q11.2-q24.
  • Malignant hyperthermia susceptibility type 3: A rare, potential lethal disorder that is triggered by general anesthetic or certain muscle relaxant drugs. On exposure to the drugs, muscle metabolism is severely disrupted and the body is unable to control its temperature which can lead to death without treatment. The chromosomal defect for type 3 is located at 7q21-q22.
  • Malignant hyperthermia susceptibility type 4: A rare, potential lethal disorder that is triggered by general anesthetic or certain muscle relaxant drugs. On exposure to the drugs, muscle metabolism is severely disrupted and the body is unable to control its temperature which can lead to death without treatment. The chromosomal defect for type 4 is located at 3q13.1.
  • Malignant hyperthermia susceptibility type 5: A rare, potential lethal disorder that is triggered by general anesthetic or certain muscle relaxant drugs. On exposure to the drugs, muscle metabolism is severely disrupted and the body is unable to control its temperature which can lead to death without treatment. The chromosomal defect for type 5 is located at 1q32.
  • Malignant hyperthermia susceptibility type 6: A rare, potential lethal disorder that is triggered by general anesthetic or certain muscle relaxant drugs. On exposure to the drugs, muscle metabolism is severely disrupted and the body is unable to control its temperature which can lead to death without treatment. The chromosomal defect for type 6 is located at 5p.
  • Malonic aciduria: A very rare genetic disorder where a deficiency of a particular enzyme (malonyl-CoA decarboxylase) impairs the body's ability to convert fatty acids into energy that can be used by muscles such as the heart muscle. Fatty acids also accumulate in the body as they are not metabolized.
  • Maternally Inherited Leigh Syndrome: A rare condition where Leigh syndrome is inherited from the mother. Leigh syndrome is characterized by degeneration of the brain and impaired function of various organs.
  • Maternally inherited diabetes and deafness: A rare disorder characterized by deafness associated with noninsulin-dependent diabetes mellitus.
  • Medium and long chan 3-hydroxyacyl-coenzyme A dehydrogenase deficiency: A metabolic disorder characterized by the deficiency of an enzyme (3-hydroxyacyl-coenzyme A dehydrogenase) which is needed to metabolise long and medum-chain fatty acids. The severity of symptoms may vary depending on the degree of the deficiency.
  • Medium and short chain 3-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.
  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency: A rare disorder where the body lacks enzymes needed to convert some fats (medium-chain fatty acids) into energy and hence these fats build up in the body and cause damage.
  • Medullary cystic kidney disease 1: A rare disorder characterized mainly by the development of kidney cysts and affects kidney function during adulthood. The disorder is caused by a genetic defect (chromosome 1q21).
  • Medullary cystic kidney disease 2: A rare disorder characterized mainly by the development of kidney cysts and affects kidney function during adulthood. The disorder is caused by a genetic defect (chromosome 16p12.3). Type 2 tends to have an earlier onset of end stage kidney failure.
  • Medullary cystic kidney disease, autosomal recessive: A genetic kidney disease which causes kidney failure in children, usually during adolescence.
  • Metabolic acidosis: metabolic acidosis is a process which if unchecked leads to acidemia (i.e. blood pH is low (less than 7.35) due to increased production of H+ by the body or the inability of the body to form bicarbonate (HCO3-) in the kidney
  • Metabolic derangement: a metabolic disorder or derangement occurs when abnormal chemical reactions in your body disrupt this process
  • Metabolic deterioration: a metabolic disorder or derangement occurs when abnormal chemical reactions in your body disrupt this process
  • Metabolic disorder: occurs when abnormal chemical reactions occur in the body
  • Metabolic encephalopathy: disorder of the brain due to a metabolic etiology
  • Methanol poisoning: Excessive ingestion of methanol. Methanol can be found in fuel, solvents and paint products.
  • Methylmalonic acidemia:
  • Methylmalonic acidemia, vitamin B12 responsive: 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. The condition responds to the administration of vitamin B12.
  • Methylmalonic aciduria -- homocystinuria: A rare group of disorders characterized by methylmalonic aciduria and homocystinuria resulting from abnormal metabolism of vitamin B12 by the liver. There are various subtypes of the condition with varying ages of onset and severity of symptoms.
  • Methylmalonicaciduria with homocystinuria, cobalamin F: An inherited organic acid disorder where an enzyme deficiency (cbl F) impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects.
  • Microcephaly, Amish type: A very rare lethal condition characterized by an abnormally small head and a metabolic abnormality.
  • Microgastria short stature diabetes: A rare syndrome characterized by a very small stomach, diabetes and a growth hormone deficiency.
  • Mild glucose intolerance symptoms: the diagnosis of mild glucose intolerance is based on the circumstance at the time of diagnosis
  • Mild igt-like symptoms: the diagnosis of mild glucose intolerance is based on the circumstance at the time of diagnosis
  • Mild poor glucose tolerance: the diagnosis of mild glucose intolerance is based on the circumstance at the time of diagnosis
  • Mild poorly controlled diabetes symptoms: Mild poorly controlled diabetes symptoms are minor symptoms of diabetes that have not been treated effectively.
  • Mitochondrial DNA depletion syndrome: A group of conditions called mitochondrial disorders involving a reduced number of mitochondrial DNA in tissues rather than defective mitochondrial DNA. The disorders generally involve neurological symptoms which can occur during infancy or childhood. Symptoms will vary depending on the specific order involved.
  • Mitochondrial encephalomyopathy -- aminoacidopathy: A very rare syndrome characterized mainly by muscle and brain disease and an amino acid disorder.
  • Mitochondrial myopathy -- lactic acidosis: A very rare syndrome characterized mainly by muscle disease and a metabolic disorder. The severity and progression of the disease is variable with some dying early in their second decade and others living longer.
  • Mitochondrial neurogastrointestinal encephalopathy syndrome: A rare genetic disorder which affects a number of body systems and manifests results in symptoms such as droopy eyelids, progressive eye muscle weakness, gastrointestinal dysmotility, brain disease, thin body, peripheral neuropathy and muscle disease.
  • Mitochondrial trifunctional protein deficiency: A rare genetic condition where the body is unable to convert certain fats to energy. More specifically, there is insufficient levels of a particular enzyme needed to metabolize a type of fat called long-chain fatty acids.
  • Molybdenum, cofactor deficiency, inherited: A rare metabolic disorder characterized by excessive levels of xanthine in the urine. It is caused by a deficiency of the enzymes xanthine dehydrogenase (as in xanthinuria type I) and enzyme aldehyde oxidase (as in xanthinuria type II) as well as sulfite oxidase which are needed to metabolize xanthine. The metabolic abnormality causes severe xanthinuria with neurological symptoms. The condition may be an inherited or acquired (due to certain drug therapies) deficiency.
  • Muscle symptoms: Symptoms affecting the muscles of the body
  • Musculoskeletal symptoms: Symptoms affecting muscles or bones of the skeleton.
  • Myopathy with lactic acidosis and sideroblastic anemia: A rare disorder of the bone marrow and skeletal muscles which manifests as muscle disease and anemia. Progressive intolerance to exercise usually starts during childhood with anemia occurring around adolescence.
  • Necrotizing enterocolitis: A rare disease that is tends to occur in premature infants and involves inflammation and destruction of gastrointestinal tissue. It usually occurs within weeks of birth - often after the start of milk feeding. The condition can be extremely serious and even fatal.
  • Nephroblastomatosis -- fetal ascites -- macrosomia -- wilms tumor: A rare condition characterized by kidney abnormalities, macroxomia, endocrine pancreas abnormalities, large fetus and mental retardation.
  • Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor: A rare condition characterized by kidney abnormalities, macroxomia, endocrine pancreas abnormalities, large fetus and mental retardation.
  • Nephronophthisis 2: A genetic kidney disorder which causes kidney failure during childhood. Other problems such as underdeveloped lungs may also be associated with the condition. Type 2 is caused by a defect in the inversin gene.
  • Nephronophthisis 3: A genetic kidney disorder which causes kidney failure during adolescence. Other problems such as underdeveloped lungs may also be associated with the condition. Type 3 is caused by a defect in the NPHP3 gene.
  • Nephronophthisis 4: A genetic kidney disorder which causes kidney failure during adolescence. Other problems such as underdeveloped lungs may also be associated with the condition. Type 4 is caused by a defect in the NPHP4 gene.
  • Nephronophthisis 7: A genetic kidney disorder which causes kidney failure during adolescence. Other problems such as underdeveloped lungs may also be associated with the condition. Type 7 is caused by a defect in the GLIS2 gene.
  • Nerve symptoms: Symptoms affecting the nerves
  • Neuroleptic malignant syndrome: A severe, potentially fatal reaction to antipsychotic drugs.
  • Nifedipine toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Nimodipine toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Noninsulin dependant diabetes mellitus:
  • Noninsulin-dependent diabetes mellitus: Gradual onset of metabolic disturbance of the blood sugars that can be controlled without insulin
  • Nortriptyline toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Oculomotor palsy due to diabetes: Oculomotor palsy due to diabetes refers to paralysis, numbness, and loss of control of the third cranial nerve, which controls many of the eye's movements, caused by diabetes.
  • Organic acidemia: High blood levels of organic acids which is caused by abnormal protein metabolism. Maple syrup urine disease and propionic academia are examples of organic acidemias. Deficiency of certain metabolic enzymes one of the main causes of organic academia.
  • Organic acidemia in children:
  • Oriental Hornet poisoning: The Oriental hornet can deliver a venomous sting which can result in serious and even life-threatening symptoms. Allergies to the venom are also a possible life-threatening consequence. Multiple stings increase the severity of symptoms.
  • Osteopetrosis -- renal tubular acidosis: A rare disorder where increased bone density is caused by carbonic anhydrase II deficiency.
  • Osteopetrosis with renal tubular acidosis: A rare disorder where increased bone density is caused by carbonic anhydrase II deficiency.
  • Oxalosis: A rare inherited metabolic disorder where excess oxalic acid forms crystals which make up urinary stones. In type I primary hyperoxaluria there is a deficiency of peroxisomal alanine-glyoxalate aminotransferase and type II involves a deficiency of the enzyme glyoxylate reductase/hydroxypyruvate reductase.
  • Oxalosis, Type II: A rare inherited metabolic disorder where excess oxalic acid forms crystals which make up urinary stones. In type I primary hyperoxaluria there is a deficiency of the enzyme glyoxylate reductase/hydroxypyruvate reductase.
  • Oxalosis, type I: A rare inherited metabolic disorder where excess oxalic acid forms crystals which make up urinary stones. In type I primary hyperoxaluria there is a deficiency of alanine-glyoxalate aminotransferase.
  • PEPCK 1 deficiency: A rare inherited disorder where deficiency of an enzyme (phosphoenolpyruvate carboxykinase-1) prevents fats and proteins being turned into glucose which causes various problems. In type 1, the enzyme deficiency occurs in the liquid part of the cells.
  • PEPCK 2 deficiency: A rare inherited disorder where deficiency of an enzyme (phosphoenolpyruvate carboxykinase-2) prevents fats and proteins being turned into glucose which causes various problems. In type 2 the deficiency occurs in the mitochondrial part of the cell which is the energy conversion organelle in the cell.
  • PEPCK Deficiency: A condition which is characterized by a deficiency of phosphoenolpyruvate carboxykinase
  • Palpable stone: Palpable stone is a stone that can be felt during a physical exam.
  • Pancreatic adenoma: A pancreatic tumor which may be benign or malignant. Symptoms may vary depending on the location and size of the tumor as well as whether the tumor secretes hormones or not. For example, the tumor may block the biliary duct.
  • Pancreatic islet cell tumors (functioning tumor): A tumor that arises from the pancreatic islet cells and produces too many hormones.
  • Panhypopituitarism: A rare condition where all pituitary hormones are absent or reduced. The condition may be congenital or acquired through such things as pituitary tumors. The pituitary gland regulates the activity of other endocrine glands as well as controlling growth. Other endocrine glands include adrenal, parathyroid, thyroid, pancreas, ovaries and testes. Symptoms can vary greatly depending on the degree of deficiency of the various hormones.
  • Phosphoenolpyruvate carboxykinase (PEPCK) deficiency: A rare inherited disorder where deficiency of an enzyme (phosphoenolpyruvate carboxykinase-1) prevents fats and proteins being turned into glucose which causes various problems. In type 1, the enzyme deficiency occurs in the liquid part of the cells and in type 2 the deficiency occurs in the mitochondrial part of the cell.
  • Phosphoglucomutase deficiency: An enzyme (phosphoglucomutase) deficiency which causes metabolic problems.
  • Pituitary Cancer: Cancer of the pituitary gland.
  • Polycystic ovary syndrome: Polycystic ovary syndrome (PCOS) is an endocrine disorder that affects approximately 5% of all women.
  • Polyneuropathy -- Ophthalmoplegia -- Leukoencehalopathy -- Intestinal Pseudo-Obstruction: A rare genetic disorder which affects a number of body systems and manifests results in symptoms such as droopy eyelids, progressive eye muscle weakness, gastrointestinal dysmotility, brain disease, thin body, peripheral neuropathy and muscle disease.
  • Poor glucose tolerance: the diagnosis of glucose intolerance is based on the circumstance at the time of diagnosis
  • Posthemorrhagic anemia: Posthemorrhagic anemia refers to a reduced number of red blood cells in the body due to bleeding.
  • Potassium deficiency: A deficiency of potassium in the body
  • Propionic Acidemia: A condition which is characterized by the excess of propionic acid and glycine in the blood resulting in acidaemia
  • Proteinuria similar to that of diabetes mellitus: excess serum proteins in urine
  • Protriptyline toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Pseudoaldosteronism: A rare genetic disorder involving early onset high blood pressure, reduced aldosterone secretion, hypokalemia and metabolic acidosis. The disorder originates from kidney dysfunction rather than impaired aldosterone secretion.
  • Pseudohypoaldosteronism: A group of disorders involving an electrolyte imbalance due to the kidney's inability to respond to aldosterone. The actual level of aldosterone may range from high to low.
  • Pyridoxamine 5-prime-phosphate oxidase deficiency: A metabolic disorder involving a deficiency of an enzyme called 5-prime-phosphate oxidase. Symptoms start soon after birth and involves seizures and other anomalies.
  • Pyruvate carboxylase deficiency:
  • Pyruvate carboxylase deficiency, Group C: A rare inherited disorder characterized by a deficiency of pyruvate carboxylase which leads to accumulation of lactic acid and other compounds which can have a toxic effect on the nervous system and body organs. Type C is a mild form of the condition.
  • Pyruvate decarboxylase deficiency: A rare genetic disorder involving an enzyme (pyruvate decarboxylase) deficiency which results in symptoms such as failure to thrive, psychomotor retardation, small head, eye problems, increased blood ammonia levels and lactic acidosis which can result in infant death in severe cases.
  • Pyruvate dehydrogenase phosphatase deficiency: A genetic disease involving an enzyme deficiency which causes exercise intolerance and mild developmental delay. Symptoms are variable.
  • Raised ambulatory 24hr pH monitoring: A pH electrode is passed through the nose and sites 5 cm above the oesophageal sphincter
  • Rapidly induced hypoglycaemia: pathological state of lower than normal blood sugar level
  • Recurring glucose intolerance symptoms: the diagnosis of glucose intolerance is based on the circumstance at the time of diagnosis
  • Recurring igt-like symptoms: the diagnosis of recurring glucose intolerance is based on the circumstance at the time of diagnosis
  • Recurring poor glucose tolerance: the diagnosis of recurring glucose intolerance is based on the circumstance at the time of diagnosis
  • Recurring poorly controlled diabetes symptoms: Recurring poorly controlled diabetes symptoms refers to symptoms of diabetes that return after resolving due to poor control of diabetes.
  • Renal dysfunction similar to that of diabetes mellitus: impaired functioning of the renal system
  • Respiratory acidosis: respiratory acidosis is acidosis (abnormally increased acidity of the blood) due to decreased ventilation of the pulmonary alveoli, leading to elevated arterial carbon dioxide concentration
  • Respiratory alkalosis: A condition caused by excessive loss of carbon dioxide from the body.
  • Respiratory depression: Also known as bradyapnea is the decreased rate of breathing.
  • Respiratory distress syndrome, infant: A respiratory disorder caused by deficiency of pulmonary surfactant in premature infants which prevents normal lung functioning.
  • Reye's syndrome: is a potentially fatal disease that causes numerous detrimental effects to many organs, especially the brain and liver
  • SCHAD Deficiency -- formerly: 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.
  • SCHAD 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.
  • Schofer beetz bohl syndrome: A rare syndrome characterized mainly by brain calcification, mental retardation, short stature, diabetes insipidus and unusual facial appearance.
  • Secondary Lactase Deficiency: This form of lactase deficiency results from some sort of damage to the intestines either due to a disease or surgery. Some possible causes include untreated celiac disease, long-term use of antibiotics, giardiasis, carcinoid syndrome, HIV enteropathy, gastrectomy and intestinal resection. Lactase enzyme activity usually develops late in pregnancy so a preterm infant will not yet have developed this enzyme function. The greater the degree of prematurity, the greater the reduction in lactase activity.
  • Senior-Loken Syndrome: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease.
  • Senior-Loken syndrome 1: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 1 is caused by a chromosomal defect on chromosome 2q13. End stage kidney disease usually occurs early in the second decade.
  • Senior-Loken syndrome 3: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 3 is caused by a chromosomal defect on chromosome 3q22. This form generally has an early onset.
  • Senior-Loken syndrome 4: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 4 is caused by a chromosomal defect on chromosome 1p36.
  • Senior-Loken syndrome 5: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 5 is caused by a chromosomal defect on chromosome 3q21.1. This form generally has a later onset.
  • Senior-Loken syndrome 6: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 6 is caused by a chromosomal defect on chromosome 12q21.3. End stage kidney disease usually occurs early in the second decade and vision impairment occurs by 3 years of age.
  • Septo-Optic Dysplasia: A rare birth defect characterized by impaired vision and pituitary deficiency.
  • Severe glucose intolerance symptoms: the diagnosis of severe glucose intolerance is based on the circumstance at the time of diagnosis
  • Severe igt-like symptoms: the diagnosis of impaired glucose intolerance is based on the circumstance at the time of diagnosis
  • Severe poor glucose tolerance: the diagnosis of severe glucose intolerance is based on the circumstance at the time of diagnosis
  • Severe poorly controlled diabetes symptoms: Severe poorly controlled diabetes symptoms are symptoms of diabetes that are serious and not well controlled.
  • Shallow breathing: Small breathes (usually with rapid breathing)
  • Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD): 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.
  • Short stature -- pituitary and cerebellar defects -- small sella turcica: A rare syndrome characterized mainly by short stature and brain and pituitary gland defects.
  • Short-Chain Acyl-CoA Dehydrogenase Deficiency: A rare disorder where the body lacks enzymes needed to convert some fats (short-chain fatty acids) into energy.
  • Succinic acidemia: A rare metabolic disorder characterized by high levels of succinic acid in the blood.
  • Succinic acidemia -- lactic acidosis, congenital: A very rare disorder characterized by high levels of succinic acid in the blood and high blood acidity which starts at birth or soon after.
  • Succinyl-CoA acetoacetate transferase deficiency: A very rare metabolic disorder involving an enzyme (Succinyl-CoA acetoacetate transferase) deficiency which prevents ketones being metabolized. Physical stress on the body (infection, exhaustion) can trigger an episode of ketosis, vomiting and rapid breathing.
  • Sudden onset of MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, stroke):
  • Sudden onset of hypoglycemia: Sudden onset of hypoglycemia refers to a rapid development of a low blood sugar level.
  • Sudden onset of poor glucose tolerance: Sudden onset of poor glucose tolerance is a condition in which there is a rapid development of a decreased ability to properly metabolize sugar.
  • Sugar in urine: An increase in the glucose levels in urine above normal
  • Sugar in urine during pregnancy: Glucose detected in the urine of a woman who is pregnant.
  • Systemic lupus erythematosus: chronic autoimmune disease that can be fatal, though with recent medical advances, fatalities are becoming increasingly rare.
  • Systemic monochloroacetate poisoning: Monochloracetate acid is a dangerous chemical which can cause systemic poisoning even if only skin exposure occurs. Exposure to the chemical can be life-threatening with serious symptoms starting within hours of the exposure.
  • Tetany: Involuntary cramps of the muscles caused by low blood calcium levels.
  • The Congenital Lactic Acidoses: A condition which is characterized by congenital lactic acidoses
  • The Methylmalonic Acidemias: A condition which is characterized by an excess of methylmalonic acid in the blood
  • The Primary Hyperoxalurias: An excess of oxalates in the urine
  • Timme syndrome: A syndrome involving insufficiency of the thymus, adrenal and pituitary glands. The disorder has involves three phases, each of which has varying symptoms: phase 1 is before puberty, phase 2 occurs after puberty and phase 3 tends to occur in the third decade.
  • Toxic mushrooms -- Renal toxic (orelline): Some mushrooms (Amanita smithiana) contain chemicals (allenic norleucine, chlorocrotyglycine) which can cause kidney damage.
  • Trimipramine toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Type 10 17b-hydroxysteroid dehydrogenase 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.
  • Type I Glycogen Storage Disease: A condition which is characterized by a disease affecting glycogen storage
  • Type III Glycogen Storage Disease: A condition which is characterized by a disease affecting glycogen storage
  • Tyrosinemia: A rare genetic metabolic disorder characterized by a deficiency of particular enzymes which prevents the breakdown of tyrosine which then builds up in the liver.
  • Tyrosinemia Type I: A condition which is characterized by an increase in the concentration of tyrosine in the blood
  • Uremic encephalopathy: occurs due to build up of toxins which are normally cleared by the kidneys
  • Urologic dysfunction similar to that of diabetes mellitus: dysfunction of the urogenital system
  • Vigorous appetite as seen in diabetes mellitus: also known as polyphagia
  • Vipoma: A rare disorder caused by an increase in secretion of vasoactive intestinal peptide by the pancreas. The syndrome is often caused by an islet-cell tumor (except for beta cells) in the pancreas.
  • Von Gierke Disease: 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.
  • Von Gierke disease IA: A genetic metabolic disorder involving a deficiency of the enzyme glucose-6-phosphatase 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 and use it to create energy. The enzyme deficiency prevents the conversion and hence low blood sugar levels result.
  • Von Gierke disease IB: A metabolic disorder involving a deficiency of glucose-6-phosphatase (due to a G6P transporter defect) which results in the accumulation of glycogen in various tissues and a reduced blood sugar level. The condition is characterized primarily by an increased risk of bacterial infections due to impaired neutrophil activity which is needed to fight bacterial invasions.
  • WDHA syndrome: A syndrome characterized by watery diarrhea, hypokalemia and achlorhydria.
  • Weakness of the forearms similar to diabetes: lack of power and strength of forearms
  • Weakness of the hands similar to diabetic neuropathy: lack of strength or power in the hands
  • White Chameleon poisoning: The white chameleon is a type of thistle found mainly in dry areas of the Mediterranean. The rhizomes contains chemicals which can cause poisoning symptoms if eaten. The plant is often mistaken for a wild artichoke. The root extract is sometimes used in alternative medicine and excessive doses can also result in poisoning.
  • Wolfram Syndrome, Mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
  • Wolfram's disease: A condition that is inherited and consists of multiple symptoms

Conditions listing medical symptoms: Metabolic symptoms:

The following list of conditions have 'Metabolic symptoms' or similar listed as a symptom in our database. This computer-generated list may be inaccurate or incomplete. Always seek prompt professional medical advice about the cause of any symptom.

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Conditions listing medical complications: Metabolic symptoms:

The following list of medical conditions have 'Metabolic symptoms' or similar listed as a medical complication in our database.

 

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