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| Carbamoyl-Phosphate Synthase I Deficiency Disease Carbamyl-Phosphate Synthetase I Deficiency Disease | Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease | Carbamoyl-Phosphate Synthetase I Deficiency Disease | Carbamoylphosphate Synthetase 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) |