Carbamoyl-Phosphate Synthase I Deficiency Disease
Synonyms
CPS 1 Deficiencies
CPS 1 Deficiency
CPS I Deficiencies
CPS I Deficiency
Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease
Carbamoyl Phosphate Synthase 1 Deficiency
Carbamoyl Phosphate Synthase 1 Deficiency Disease
Carbamoyl Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)
Carbamoyl Phosphate Synthetase I Deficiency
Carbamoyl Phosphate Synthetase I Deficiency Disease
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Carbamoyl-Phosphate Synthase 1 Deficiency Disease
Carbamoyl-Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)
Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)
Carbamoyl-Phosphate Synthetase I Deficiency Disease
Carbamoylphosphate Synthetase 1 Deficiency Disease
Carbamoylphosphate Synthetase 1 Deficiency Disease -
Carbamoylphosphate Synthetase I Deficiency Disease
Carbamyl Phosphate Synthetase (CPS) Deficiency
Carbamyl Phosphate Synthetase 1 Deficiency Disease
Carbamyl Phosphate Synthetase Deficiency Disease
Carbamyl Phosphate Synthetase I Deficiency Disease
Carbamyl-Phosphate Synthetase 1 Deficiency Disease
Carbamyl-Phosphate Synthetase I Deficiency Disease
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)