Carbamoyl-Phosphate Synthase I Deficiency Disease (Carbamyl-Phosphate Synthetase I Deficiency Disease; Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency); CPS 1 Deficiency; Deficiency Disease, Carbamyl Phosphate Synthetase; Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency)

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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