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argininosuccinic aciduria

 

Definition: 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

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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