Glossary for Metabolic disorder
Medical terms related to Metabolic disorder or mentioned in this section include:
- Abdominal symptoms: Symptoms affecting the abdomen or digestive tract
- Acetazolamide -- Teratogenic Agent: Experimental studies on mice, rats and rabbits indicate that the use of Acetazolamide during pregnancy may cause various harmful effects on the fetus. The likelihood and severity of symptoms may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at. The effect on human fetuses has not been conclusively determined.
- Acidosis: The accumulation of hydrogen ions or the depletion of the alkaline reserve in the body.
- Alkaptonuria: A rare inherited metabolic disease characterized by homogentisic aciduria, arthritis and ochronosis. Symptoms include darkening of urine, alkinization due to overproduction of homogentisic acid, arthritis in the large joints and black ochronotic pigmentation of cartilage and collagen tissue. However, many of these symptoms may not occur until middle age. The condition may also be caused by chronic phenol poisoning.
- Amyloidosis: A disease characterized by the accumulation of insoluble amyloid protein in tissues and organs which in turn affects the functioning of these tissues and organs.
- Barth Syndrome: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 2 is characterized by its affects on the heart.
- Biotinidase deficiency: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes.
- Body symptoms: Symptoms affecting the entire body features.
- Chronic renal failure: Long-term and generally irreversible disease of the kidneys due to infection, obstruction, congenital diseases or generalised diseases causing failure of the kidneys' normal functions.
- Congenital adrenal hyperplasia: A condition where excessive secretion of adrenocortical androgens cause a somatic masculization or ?virilization? effect on a fetus or baby. Symptoms in girls may include masculization of sex organs, low voice, acne, amenorrhea and masculine hair distribution and muscle growth. Symptoms in boys include enlarged penis, small testes. Children with the condition are usually taller than average but develop into short adults. Also called adrenogenital syndrome or adrenal virilism.
- Developmental problems: Physical or mental development difficulty.
- Digestive symptoms: Any symptoms affecting the digestive tract.
- Farber's disease: A rare inherited biochemical disorder involving the deficiency of an enzyme called ceramidase resulting in the harmful accumulation of certain chemicals in the body which causes damage and inflammation.
- Galactosemia: Accumulation of galactose in the blood leading to mental retardation and failure to thrive if not corrected.
- Gaucher Disease: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3.
- Glucose-6-Phosphate Dehydrogenase Deficiency: A rare enzyme abnormality involving a deficiency of the glucose-6-phosphate dehydrogenase which causes premature destruction of red blood cells. The excessive destruction of red blood cells can be triggered by certain infections or drugs or by eating fava beans.
- 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.
- Glycogen storage diseases: A condition which is characterized by a defect in the ability of the body to store glycogen
- Head symptoms: Symptoms affecting the head or brain
- Homocystinuria: A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body.
- Hypercholesterolemia: is the presence of high levels of cholesterol in the blood.
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: A very rare inherited metabolic disorder where ammonia builds up in the body due to a defect in the transport of ornithine which prevents ammonia being converted to urea and being excreted through the urine. The severity of the condition is variable.
- Hypophosphatasia: A rare genetic disorder characterized by short limbs, dwarfism and general lack of bone calcification.
- Ketoacidosis: A condition which is characterized by acidosis and the accumulation of ketone bodies in the body
- Lactic acidosis: A condition which is characterized by the occurance of a metabolic acidosis due to the accumulation of lactic acid
- Lesch-Nyhan syndrome: Inherited biochemical disorder of purine metabolism caused by the virtual absence of an enzyme called hypoxanthine-guanine phosphoribosyltransferase or HPRT.
- Maple syrup urine disease: An inherited metabolic disorder involving amino acid metabolism and characterized by a sweet smelling urine, similar to maple syrup.
- Metabolic disorder: occurs when abnormal chemical reactions occur in the body
- Metabolic symptoms: Symptoms affecting the metabolic system.
- Methylmalonic acidemia -- homocystinuria: A rare inborn error of metabolism which results in impaired vitamin B12 metabolism. There are a number of forms of this condition with variable severity.
- 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.
- Mouth symptoms: Symptoms of the mouth or oral area.
- Movement symptoms: Changes to movement or motor abilities
- Mucopolysaccharidoses: A lysosomal storage disorder that is caused by a deficiency of the ability to metabolise glycosaminoglycans
- Muscle symptoms: Symptoms affecting the muscles of the body
- Musculoskeletal symptoms: Symptoms affecting muscles or bones of the skeleton.
- Nerve symptoms: Symptoms affecting the nerves
- Niemann-Pick disease: A rare inherited biochemical disorder involving the deficiency of an enzyme (acid sphingomyelinase) needed to break down certain lipids which results in an accumulation of these lipids in the body.
- Non-ketotic hyperglycemia:
- Non-ketotic hyperglycinemia: A rare disorder of amino acid metabolism where glycine and proline are unable to be metabolized properly due to defects in the glycine cleavage system.
- 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.
- Phenylketonuria: A metabolic disorder where there is a deficiency of the enzyme phenylalanine hydroxylase which leads to a harmful buildup of the phenylalanine in the body. Normally the phenylalanine is converted into tyrosine. The severity of the symptoms can range from severe enough to cause mental retardation to mild enough not to require treatment. Severity is determined by the level of impairment of enzyme activity of phenylalanine hydroxylase.
- Pompe disease: A rare inherited biochemical disorder where insufficient maltase acid results in accumulation of glycogen. The condition is often fatal in infants, causes mental retardation, hypotonia and a short life in children and progressive muscle weakness in adults. Also called glycogen storage disease type II.
- Porphyria: A group of disorders characterized by excess production of porphyrin or its precursors which affects the skin and/or nervous system.
- Pyruvate carboxylase deficiency:
- 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.
- Urea Cycle Disorders: Any disorder that affects the urea cycle.
- Wolman disease: A rare inherited lipid storage disease. The condition usually results in death early in life.
- Zellweger Syndrome: Zellweger spectrum disorders are a group of rare, genetic, multisystem disorders that were once thought to be separate entities. These disorders are now classified as different expressions (variants) of one disease process. Collectively, they form a spectrum or continuum of disease. Zellweger syndrome is the most severe form; neonatal adrenoleukodystrophy is the intermediate form; and infantile Refsum disease is the mildest form.
Conditions listing medical symptoms: Metabolic disorder:
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