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单词 Argininosuccinate Synthase Deficiency Disease
释义

Argininosuccinate Synthase Deficiency Disease


《英文msh词典》Argininosuccinate Synthase Deficiency Disease
[同义词] Argininosuccinate Synthase Deficiency Disease
[主题词] Citrullinemia
[中文释义] 精氨酸琥珀酸盐合酶缺乏病
[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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