Carbamoyl phosphate synthetase 1 deficiency
Other Names for this Disease
- Hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency
- CPS 1 deficiency
- Carbamyl phosphate synthetase (CPS) deficiency
Tests & Diagnosis
- Orphanet lists international laboratories offering diagnostic testing for this condition.
- The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.