- argininosuccinate synthase deficiency
- ar·gi·ni·no·suc·ci·nate syn·thase de·fi·cien·cy (ahr″jĭ-ne″no-sukґsĭ-nāt sinґthās) citrullinemia.
Medical dictionary. 2011.
argininosuccinate synthase deficiency
Look at other dictionaries:
argininosuccinate synthase — ar·gi·ni·no·suc·cin·ate syn·thase (ahr″jĭ ne″no sukґsĭ nāt sinґthās) [EC 6.3.4.5] an enzyme of the ligase class that catalyzes the condensation of citrulline and aspartate to form argininosuccinate. The reaction is … Medical dictionary
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citrullinemia — Urea cycle disorder in which citrulline concentrations in the blood, urine, and cerebrospinal fluid are elevated, because of deficiency of arginosuccinate synthetase (ASS); manifested clinically by lethargy … Medical dictionary
Urea cycle — The urea cycle (also known as the ornithine cycle) is a cycle of biochemical reactions occurring in many animals that produces urea ((NH2)2CO) from ammonia (NH3). This cycle was the first metabolic cycle discovered (Hans Krebs and Kurt Henseleit … Wikipedia
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citrullinemia type I — a condition caused by mutations in the ASS gene (locus: 9q34.1), which encodes argininosuccinate synthase, marked elevation in plasma and urine levels of citrulline, with hyperammonemia and sometimes secondary oroticaciduria; mild to moderate… … Medical dictionary
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