| 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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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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