Carbamoyl-Phosphate Synthase I Deficiency Disease

**Definition:** 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)

**Tree numbers:** - C10.228.140.163.100.937.249 - C16.320.565.100.940.249 - C16.320.565.189.937.249 - C18.452.132.100.937.249 - C18.452.648.100.940.249 - C18.452.648.189.937.249 - C18.452.660.097

**Synonyms:** - Carbamyl-Phosphate Synthetase I Deficiency Disease - Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease - Carbamoyl-Phosphate Synthetase I Deficiency Disease - Carbamoylphosphate Synthetase I Deficiency Disease - Carbamyl Phosphate Synthetase Deficiency Disease - Carbamoyl-Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) - Carbamoylphosphate Synthetase 1 Deficiency Disease - - Carbamyl-Phosphate Synthetase 1 Deficiency Disease - Carbamoyl-Phosphate Synthase 1 Deficiency Disease - Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)