argininosuccinate lyase

(redirected from argininosuccinase)

ar·gi·ni·no·suc·ci·nate ly·ase

(ar'ji-ni-nō-sŭk'si-nāt lī'ās),
An enzyme cleaving l-argininosuccinate nonhydrolytically to produce l-arginine and fumarate; a deficiency of this enzyme leads to argininosuccinoaciduria; catalyzes a step in the urea cycle.
Synonym(s): argininosuccinase
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References in periodicals archive ?
In contrast, a uracil concentration within reference values was observed for the patient with an argininosuccinase deficiency.
In our study, all four patients with a defect in either ornithine transcarbamylase or argininosuccinase presented with highly increased concentrations of orotate and N-C-aspartate.
Analysis of pyrimidine synthesis "de Novo" intermediates in urine and dried urine filter-paper strips with HPLC-electrospray tandem mass spectrometry
Screening blood spots for argininosuccinase deficiency by electrospray tandem mass spectrometry.
Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns
The peak ratio of citrulline to tyrosine acquired in the scan function for neutral loss of 119 Da was extremely useful for detecting several cases of argininosuccinic synthetase deficiency and argininosuccinase deficiency [33].
IS, internal standard; NA, not applied; Ile, isoleucine; TYR, tyrosinemia; MSUD, maple syrup urine disease; HCYS, homocystinuria; NKG, nonketotic hyperglycinemia; ASD, argininosuccinic acid synthetase deficiency; ALD, argininosuccinase deficiency; PYG/PIP, pyroglutamic/pipecolic acidemia; PRO, hyperprolinemia.
Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles
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.
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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.
NATIONAL RESOURCES FOR SPECIFIC DISABILITIES
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.
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