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argininosuccinicaciduria

Pronunciation: ar′ji-nin-ō-sŭk-sin′ik-as′i-dū′rē-ă

Definition: A disorder of the urea cycle resulting from a deficiency of argininosuccinate lyase; characterized by physical and mental retardation, epilepsy, ataxia, liver disease, friable, tufted hair, and excessive urinary excretion of argininosuccinic acid. Autosomal recessive inheritance, caused by mutation in argininosuccinate lyase gene (ASL) on chromosome 7q.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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