| 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.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| argininosuccinic acid |
a compound formed by the condensation of aspartic acid and citrulline as a step in the urea cycle (q.v.).
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| argininosuccinicacidemia |
the presence in the blood of argininosuccinic acid.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| argininosuccinicaciduria |
1. an autosomal recessive aminoacidopathy characterized by urinary excretion of argininosuccinic acid, owing to a deficiency of argininosuccinate lyase, with hyperammonemia, argininosuccinicacidemia, and citrullinemia. Neonatal and late onset forms exist, and clinical findings, which vary widely in severity, include mental retardation, seizures, ataxia, hepatomegaly, and friable hair (trichorrhexis nodosa). Called also argininosuccinase or argininosuccinate lyase deficiency. 2. excretion of argininosuccinic acid in the urine.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| arginyl |
the acyl radical of arginine.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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