argininosuccinic aciduria


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argininosuccinic aciduria

[MIM*207900]
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.

ar·gi·ni·no·suc·ci·nic ac·i·du·ri·a

(ahr'ji-nī'nō-sŭk-sin'ik-as-i-dyūr'ē-ă)
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.
References in periodicals archive ?
In this study, six newborn cases diagnosed between 2010-2014 as citrullinemia Type I (four cases) and argininosuccinic aciduria (two cases) are presented in terms of clinical course and treatment responses.
In humans, the natural history of argininosuccinic aciduria caused by deficiency of ASL shows systemic and chronic features that reflect in part global dysregulation of NO homeostasis.
Jade suffers from Argininosuccinic Aciduria, which means she could die if she eats too much protein.
Anorexia and altered serotonin metabolism in a patient with argininosuccinic aciduria.
Argininosuccinic aciduria (ASAuria; OMIM 207900) is an autosomal recessive inborn error of the urea cycle caused by deficiency of the enzyme argininosuccinate lyase (ASL; EC 4.
Results from the metabolic screen indicate argininosuccinic aciduria, a urea cycle defect.
Epidemiology, symptoms, and treatments are the same as those for argininosuccinic aciduria.
The false-positive and -negative rates for acute neonatal citrullinemia and argininosuccinic aciduria appear to be low because we have diagnosed several cases in newborns.
com 1,2,3,4,7,9 AQUEDUCTAL STENOSIS See: Hydrocephalus ARACHNODACTYLY See: Marfan Syndrome AREGENERATIVE ANEMIA See: Anemia, Aplastic ARGINASE DEFICIENCY See: Urea Cycle Disorders ARGININOSUCCISE DEFICIENCY See: Urea Cycle Disorders ARGININOSUCCINIC ACID SYNTHETASE DEFICIENCY See: Urea Cycle Disorders ARGININOSUCCINIC ACIDURIA See: Urea Cycle Disorders ARNOLD-CHIARI MALFORMATION See also: Spina Bifida; Syringomyelia Arnold-Chiari Family Network c/o Maureen & Kevin Walsh 67 Spring St.
Thus, ORA aciduria is observed in patients with ornithine carbamoylasetransferase deficiency (OCTD), an X-linked disorder, and could reveal heterozygosity after a protein load, and in citrullinemia, argininosuccinic aciduria, and argininemia (2, 3).