| argininosuccinase deficiency |
argininosuccinicaciduria.
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| argininosuccinate |
the anionic form of argininosuccinic acid.
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| argininosuccinate lyase |
[EC 4.3.2.1] an enzyme of the lyase class that catalyzes the cleavage of argininosuccinate to form fumarate and arginine. The reaction is part of the urea cycle in the liver (see illustration at urea cycle, under cycle). Deficiency of the enzyme, an autosomal recessive trait, results in argininosuccinicaciduria. Called also argininosuccinase.
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| argininosuccinate synthase |
[EC 6.3.4.5] an enzyme of the ligase class that catalyzes the condensation of citrulline and aspartate to form argininosuccinate. The reaction is a part of the urea cycle in the liver (see illustration at urea cycle, under cycle). Written also argininosuccinate synthetase.
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| argininosuccinate synthase deficiency |
an autosomal recessive aminoacidopathy characterized by marked elevation in plasma and urine levels of citrulline, with hyperammonemia and sometimes secondary oroticaciduria. Neonatal and late onset forms exist and clinical findings, which vary widely in severity, include mental retardation and neurologic abnormalities. Called also citrullinemia and citrullinuria.
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