| 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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