citrullinemia : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 1 페이지: 1

Citrullinemia - 새창 A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)
Synonyms : Argininosuccinic Acid Synthase Deficiency Disease, Argininosuccinic Acid Synthetase Deficiency Disease, Argininosuccinic Acid Synthetase Deficiency Disease, Partial, Argininosuccinic Acid Synthetase Deficiency, Complete, Citrullinemia, Classical