argininosuccinicaciduria

argininosuccinicaciduria

 [ahr″jĭ-ne″no-suk-sin″ik-as″ĭ-du´re-ah]
excretion in the urine of argininosuccinic acid, a feature of an inborn error of metabolism marked also by mental retardation.

ar·gi·ni·no·suc·cin·ic·ac·i·du·ri·a

(ar'ji-nin-ō-sŭk-sin'ik-as'i-dū'rē-ă), [MIM*207900]
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.

argininosuccinicaciduria

/ar·gi·ni·no·suc·cin·ic·ac·id·uria/ (-as″ĭ-du´re-ah)
1. an inherited aminoacidopathy due to deficiency of a urea cycle enzyme, with excessive levels of argininosuccinic acid in the blood and urine, ammonia and citrulline in blood, mental retardation, seizures, and other symptoms.
2. excretion in the urine of argininosuccinic acid.

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.