Disease association ontology term - MONDO:0009376 - carbamoyl phosphate synthetase I deficiency disease
Term summary
- ID
- MONDO:0009376
- Name
- carbamoyl phosphate synthetase I deficiency disease
- Ontology or CV name
- Disease association
- Definition
- Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.
