《英文msh词典》Deficiency Disease,Carbamoyl Phosphate Synthase
[入口词] Deficiency Disease,Carbamoyl Phosphate Synthase
[主题词] Carbamoyl-Phosphate Synthase I Deficiency Disease
[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)