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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Research

Clinical Trials & Research for this Disease

  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Study of Treatment and Metabolism in Patients With Urea Cycle Disorders which may be of interest to you. To find this trial, click on the link above.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Patient Registry

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.