argininosuccinicaciduria

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ar·gi·ni·no·suc·cin·ic·ac·id·uria (ahr″jĭ-ne″no-suk-sin″ik-as″ĭ-duґre-ə) 1. an autosomal recessive aminoacidopathy caused by mutations in the ASL gene (locus: 7cen-q11.2), which encodes argininosuccinate lyase, characterized by urinary excretion of argininosuccinic acid with hyperammonemia, argininosuccinicacidemia, and hypercitrullinemia. Neonatal and late onset forms exist, and clinical findings, which vary widely in severity, include mental retardation, seizures, ataxia, hepatomegaly, and friable hair. Called also argininosuccinase or argininosuccinate lyase deficiency. 2. excretion of argininosuccinic acid in the urine.

Medical dictionary. 2011.

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  • argininosuccinate lyase — An enzyme cleaving l argininosuccinate nonhydrolytically to l arginine and fumarate; a deficiency of this enzyme leads to argininosuccinoaciduria; a key step in the urea cycle. SYN: argininosuccinase. * * * ar·gi·ni·no·suc·cin·ate ly·ase… …   Medical dictionary

  • argininosuccinase deficiency — ar·gi·ni·no·suc·cin·ase de·fi·cien·cy (ahr″jĭ ne″no sukґsĭ nās) argininosuccinicaciduria …   Medical dictionary

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