excretion in the urine of argininosuccinic acid, a feature of an inborn error of metabolism marked also by mental retardation.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
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.
Farlex Partner Medical Dictionary © Farlex 2012
argininosuccinicaciduria(ar″jĭn-ĭ-nō″sŭk″sĭ″nĭk-as″ĭ-dūr′ē-ă) [ argininosuccin(ase) + aciduria]
A hereditary metabolic disease caused by excessive excretion, and thus deficiency, of argininosuccinase, an enzyme required to metabolize argininosuccinic acid. Findings include mental retardation, friable tufted hair, convulsions, ataxia, liver disease, and epilepsy.
Medical Dictionary, © 2009 Farlex and Partners