| ASA | acetylsalicylic acid; active systemic anaphylaxis; Adams-Stokes attack; American Society of Anesthes... |
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| MMA | Methylmalonic acidemia |
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| argininosuccinic acid | <chemical> This amino acid is formed during the urea cycle from citrulline, aspartate and ATP. This reaction is catalyzed by argininosuccinic acid synthetase. Chemical name: L-Aspartic acid, N-(((4-amino-4-carboxybutyl)amino)iminomethyl)-, (S)- (12 Dec 1998) |
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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) |
| acidemia | An increase in the H-ion concentration of the blood or a fall below normal in pH, notwithstanding alterations in bicarbonate concentration. Individual types of acidemia are listed by specific name, e.g., isovalericacidemia, aminoacidemia, etc. Origin: acid + G. Haima, blood (05 Mar 2000) |
| methylmalonic acidemia | ketotic hyperglycinaemia |
| propionic acidemia | ketotic hyperglycinaemia |
| hyperpipecolic acidemia | A metabolic disorder in which serum concentrations of pipecolic acid are greatly increased; characterised by hepatomegaly and progressive, generalised demyelination of the nervous system. Synonym: hyperpipecolic acidemia. (05 Mar 2000) |
| isovaleric acidemia | A disorder of leucine metabolism characterised by the excessive production of isovaleric acid upon protein ingestion or during infectious episodes; severe metabolic acidosis results from the large quantities of acid formed; autosomal recessive inheritance; due to a deficiency of isovaleryl-CoA dehydrogenase. Synonym: sweaty feet syndrome. (05 Mar 2000) |
| lactic acidemia | The presence of dextrorotatory lactic acid in the circulating blood. Synonym: lactacidemia. Origin: Lactic acid + G. Haima, blood (05 Mar 2000) |
| 2-ketoadipic acidemia | Elevated levels of 2-ketoadipic acid in the serum. (05 Mar 2000) |
| fumaric acidemia | Elevated levels of fumarate in blood plasma; due to a decrease in activity of fumarate hydratase. (05 Mar 2000) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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