| 单词 | Complete Argininosuccinic Acid Synthetase Deficiency Disease |
| 释义 | Complete Argininosuccinic Acid Synthetase Deficiency Disease《英文msh词典》Complete Argininosuccinic Acid Synthetase Deficiency Disease [入口词] Complete Argininosuccinic Acid Synthetase Deficiency Disease [主题词] Citrullinemia [英文释义] 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) |
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