| 单词 | Carbamyl-Phosphate Synthetase I Deficiency Disease |
| 释义 | Carbamyl-Phosphate Synthetase I Deficiency Disease《英文msh词典》Carbamyl-Phosphate Synthetase I Deficiency Disease [同义词] Carbamyl-Phosphate Synthetase I Deficiency Disease [主题词] Carbamoyl-Phosphate Synthase I Deficiency Disease [中文释义] 氨甲酰磷酸合成酶Ⅰ缺乏疾病 [英文释义] A urea cycle disorder manifesting in infancy as lethargy,emesis,seizures,alterations of muscle tone,abnormal eye movements,and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes,Textbook of Child Neurology,5th ed,pp50-1) |
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