Carbamoyl-Phosphate Synthase I Deficiency Disease
MESHD020165
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)
Synonyms
- Carbamyl-Phosphate Synthetase I Deficiency Disease
- Carbamyl Phosphate Synthetase I Deficiency Disease
- Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease
- Carbamoyl-Phosphate Synthetase I 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)
- Carbamoyl Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)
- Carbamoylphosphate Synthetase 1 Deficiency Disease -
- Carbamoylphosphate Synthetase 1 Deficiency Disease
- Carbamyl-Phosphate Synthetase 1 Deficiency Disease
- Carbamyl Phosphate Synthetase 1 Deficiency Disease
- Carbamoyl-Phosphate Synthase 1 Deficiency Disease
- Carbamoyl Phosphate Synthase 1 Deficiency Disease
- Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)
- Carbamoyl Phosphate Synthase 1 Deficiency
- Carbamoyl Phosphate Synthetase I Deficiency
- CPS I Deficiency
- CPS I Deficiencies
- CPS 1 Deficiency
- CPS 1 Deficiencies
- Carbamyl Phosphate Synthetase (CPS) Deficiency
- Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
- Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Source last updated 2026-05-24T15:25:36.043Z