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 ?
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.
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.
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).
org 1,2,4,7 AQUEDUCTAL STEN0SlS See: Hydrocephalus ARACHNODACTLY See: Marfan Syndrome AREGENERATIVE ANEMIA See: Anemia, Aplastic ARGINASE DEFICIENCY See: Urea Cycle Disorders ARGININOSUCCINASE DEFICIENCY See: Urea Cycle Disorders ARGININOSUCCINIC ACID SYNTHETASE DEFICIENCY See: Urea Cycle Disorders ARGININOSUCCINIC ACIDURIA See: Urea Cycle Disorders ARNOLD CHIARI MALFORMATION See also: Syringomyelia National Institute of Neurological Disorders (NIH) 31 Center Dr.
org 1,2,4,7 AQUEDUCTAL STENOSIS See: Hydrocephalus ARACHNODACTYLY See: Marfan Syndrome AREGENERATIVE ANEMIA See: Anemia, Aplastic ARGINASE DEFICIENCY See: Urea Cycle Disorders ARGININOSUCCINASE DEFICIENCY See: Urea Cycle Disorders ARGININOSUCCINIC ACID SYNTHETASE DEFICIENCY See: Urea Cycle Disorders ARGININOSUCCINIC ACIDURIA See: Urea Cycle Disorders ARNOLD CHIARI MALFORMATION See also: Syringomyelia National Institute of Neurological Disorders (NIH) 31 Center Dr.
Patients with other urea cycle disorders, such as argininemia, citrullinemia, argininosuccinic aciduria, and lysinuric protein intolerance, as well as mitochondrial disorders (7), may also show a positive allopurinol test.
Epidemiology, symptoms, and treatments are the same as those for argininosuccinic aciduria.
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 ARGININOSUCCINASE 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 Weymouth.