argininosuccinicaciduria

[ahr″jĭ-ne″no-suk-sin″ik-as″ĭ-du´re-ah] excretion in the urine of argininosuccinic acid, a feature of an error of metabolism" >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″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.

单词	argininosuccinicaciduria
释义	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 error of metabolism" >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), [MIM207900] 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″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.
随便看	stammering it out stammeringly stammering of bladder stammering of the bladder stammering out stammerings stammering something out stammering // stuttering stammering// stuttering stammer it out stammer out stammers stammers it out stammer something out stammers out stammers something out stammerwort stammer’s method stammis stammler, rudolf stamnos stamnosoma stamo stamod stamo, evgenii