Carbamoyl phosphate synthetase 1 deficiency
Other Names for this Disease
- Carbamoyl-phosphate synthase 1 deficiency
- Carbamoyl-phosphate synthase deficiency
- Carbamoyl-phosphate synthetase 1 deficiency
- Carbamoyl-phosphate synthetase 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 created by the National Library of Medicine (NLM) at the National Institutes of Health (NIH) promotes and facilitates the use of electronic health data standards in recording and transmitting newborn screening test results. The Web site includes standard codes and terminology for newborn tests and conditions for which they screen, and links to related sites. Click on the link to view details for this condition.