argininosuccinic aciduria

(redirected from arginosuccinate lyase deficiency)

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.

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.