argininosuccinic aciduria

[MIM*207900] an autosomal-recessive disorder characterized 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. Synonym(s): arginosuccinate lyase deficiency

ar·gi·ni·no·suc·ci·nic ac·i·du·ri·a

(ahr'ji-nī'nō-sŭk-sin'ik-as-i-dyūr'ē-ă) An autosomal recessive disorder characterized 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.

单词	argininosuccinic aciduria
释义	argininosuccinic aciduria argininosuccinic aciduria [MIM*207900] an autosomal-recessive disorder characterized 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. Synonym(s): arginosuccinate lyase deficiency ar·gi·ni·no·suc·ci·nic ac·i·du·ri·a (ahr'ji-nī'nō-sŭk-sin'ik-as-i-dyūr'ē-ă) An autosomal recessive disorder characterized 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.
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