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)

Descriptor ID	D020165
MeSH Number(s)	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
Concept/Terms	Carbamoyl-Phosphate Synthase I Deficiency Disease Carbamoyl-Phosphate Synthase I Deficiency Disease Carbamoyl Phosphate Synthetase I Deficiency CPS I Deficiency CPS I Deficiencies Deficiencies, CPS I Deficiency, CPS I Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) Carbamoyl-Phosphate Synthetase I Deficiency Disease Carbamoyl Phosphate Synthetase I Deficiency Disease Carbamoylphosphate Synthetase I Deficiency Disease Carbamyl Phosphate Synthetase (CPS) Deficiency Carbamyl Phosphate Synthetase Deficiency Disease Deficiency Disease, Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease, Carbamoyl-Phosphate Synthase Deficiency Disease, Carbamoyl Phosphate Synthase Deficiency Disease, Carbamoylphosphate Synthetase I Deficiency Disease, Carbamyl Phosphate Synthetase Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency Carbamyl-Phosphate Synthetase I Deficiency Disease Carbamyl Phosphate Synthetase I Deficiency Disease CPS 1 Deficiency CPS 1 Deficiencies Deficiencies, CPS 1 Deficiency, CPS 1 Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease

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