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Diseases

Genetic and Rare Diseases Information Center (GARD)

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
Related Diseases
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Tests & Diagnosis

On this page

Testing

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

Newborn Screening

  • 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.
Other Names for this Disease
  • Hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency
  • CPS 1 deficiency
  • Carbamyl phosphate synthetase (CPS) deficiency
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.