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 ?
The company added that the funds will be used to support the pre-clinical development of an exosome-based therapy to treat argininosuccinic aciduria (ASA) in collaboration with University College London (UCL).
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.
Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria. J Inherit Metab Dis 2005; 28: 877-83.
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. J Pediatr.
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 4.3.2.1) (1).
FINAL DIAGNOSIS: Argininosuccinic aciduria (urea cycle defect).
Epidemiology, symptoms, and treatments are the same as those for argininosuccinic aciduria.
(e) ASA, argininosuccinic aciduria; C12, dodecanoylcarnitine; C18:10H, hydroxyoctadecenoylcarnitine; C180H, hydroxyoctadecanoylcarnitine; IVA, isovaleric acidemia; 3-MCC, 3-methylcrotonyl-CoA carboxylase; HMG, 3-hydroxy-3-methylglutaryl-CoA lyase.
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).