Definitions of carbamoyl-phosphate synthase i deficiency disease

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Definition of 'carbamoyl-phosphate synthase i deficiency disease'

U.S. National Library of Medicine

1. carbamoyl-phosphate synthase i deficiency disease
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)

'carbamoyl-phosphate synthase i deficiency disease' - Nearby Entries
carbamazepine carbamoyl-phosphate synthase (ammonia) carbamoyl-phosphate synthase (glutamine-hydrolyzing) carbamoyl-phosphate synthase i deficiency disease carbamyl phosphate carbapenems carbaryl

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