| GA I | Glutaric aciduria type I |
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| MMA | Methylmalonic aciduria |
beta-arrestin
| aciduria | 1. Excretion of an acid urine. 2. Excretion of an abnormal amount of any specified acid. Individual types of aciduria are prefixed by the specific acid; e.g., aminoaciduria, ketoaciduria. Origin: acid + G. Ouron, urine (05 Mar 2000) |
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| argininosuccinic aciduria | <biochemistry> Argininosuccinic aciduria, an autosomal recessive defect of the urea cycle, is due to deficiency of argininosuccinate lyase (argininosuccinase), which catalyses the hydrolysis of argininosuccinic acid to arginine and fumaric acid. It is characterised by excessive urinary excretion of argininosuccinic acid, epilepsy, ataxia, mental retardation, liver disease, and friable, tufted hair; presumed to be the consequence of a deficiency of an enzyme responsible for splitting argininosuccinic acid to arginine and fumaric acid. Argininosuccinase is a cytosolic enzyme found in highest amounts in the liver. Like the other urea cycle defects except for arginase deficiency, argininosuccinic aciduria typically presents early in the neonatal period with serious, often fatal, hyperammonaemia and residual neurologic damage. Argininosuccinic acid is found in high concentrations in plasma and urine by amino acid chromatography. It can also be detected in amniotic fluid for purposes of prenatal diagnosis. Diagnosis is confirmed by specific enzyme assay. The argininosuccinase gene has been cloned and is found on chromosome 7. Inheritance: autosomal recessive. Acronym: ASA (05 Mar 2000) |
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| beta-hydroxypropionic aciduria | Elevated levels of beta-hydroxypropionic acid in the urine; seen in defects in methylmalonic acid and propionate metabolism, as well as in ketotic hyperglycinaemia syndrome. (05 Mar 2000) |
| glycolic aciduria | Excessive excretion of glycolic acid in the urine; a primary metabolic defect due to deficiency of 2-hydroxy-3-oxoadipate carboxylase, resulting in excretion of glycolic and oxalic acids, leading to the clinical syndrome of oxalosis. (05 Mar 2000) |
| methylmalonic aciduria | Excretion of excessive amounts of methylmalonic acid in urine owing to deficient activity of methylmalonyl-CoA mutase or deficient cobalamin reductase. Two types occur: 1) an inborn error of metabolism resulting in severe ketoacidosis shortly after birth, with long-chain urinary ketones; autosomal recessive inheritance; 2) acquired, a type due to vitamin B12 deficiency due to defective synthesis of adenosylcobalamin. (05 Mar 2000) |
| mevalonic aciduria | Elevated levels of mevalonic acid in the urine; associated with a deficiency of mevalonate kinase. (05 Mar 2000) |
| hyper-beta-aminoisobutyric aciduria | Elevated levels of beta-aminoisobutyric acid in the urine; believed to be due to a deficiency of liver R-beta-aminoisobutyrate:pyruvate aminotransferase. (05 Mar 2000) |
| d-glyceric aciduria | 1. Elevated levels of d-glyceric acid in the urine. 2. An inborn error in metabolism resulting in d-glyceric aciduria. (05 Mar 2000) |
| orotic aciduria | A rare disorder of pyrimidine metabolism characterised by hypochromic anaemia with megaloblastic changes in bone marrow, leukopenia, retarded growth, and urinary excretion of orotic acid; autosomal recessive inheritance. Origin: orotic acid + G. Ouron, urine (05 Mar 2000) |
| urocanic aciduria | Elevated levels of urocanic acid in the urine. (05 Mar 2000) |
| 3-methylglutaconic aciduria | Elevated levels of 3-methylglutaconic acid in the urine. An inherited disorder whose mild form is a result of a deficiency of 3-methylglutaconyl-CoA hydratase, leading to delayed speech development. (05 Mar 2000) |
| 4-hydroxybutyric aciduria | Elevated levels of 4-hydroxybutyrate in the urine. An inherited disorder that can lead to hypotonia and mental retardation. (05 Mar 2000) |
| l-glyceric aciduria | Excretion of l-glyceric acid in the urine; a primary metabolic error due to deficiency of d-glyceric dehydrogenase resulting in excretion of l-glyceric and oxalic acids, leading to the clinical syndrome of oxalosis with frequent formation of oxalate renal calculi. (05 Mar 2000) |
| aciduria |
excess of acid in the urine; types are usually named for the acid in question, such as aminoaciduria, dicarboxylicaciduria, glutaricaciduria), and so on.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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