Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Carnitine palmitoyl transferase 1 deficiency


Other Names for this Disease
  • Carnitine palmitoyltransferase 1A deficiency
  • CPT1A deficiency
  • Hepatic carnitine palmitoyltransferase 1 deficiency
  • Hepatic CPT1
  • L-CPT 1 deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Carnitine palmitoyl transferase 1 deficiency. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • 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 Studies of Children with Metabolic or Other Genetic Disorders which may be of interest to you. To find this trial, click on the link above.