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Diseases

Genetic and Rare Diseases Information Center (GARD)

Primary carnitine deficiency


Other Names for this Disease
  • Systemic primary carnitine deficiency
  • Carnitine uptake defect
  • Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine
  • Carnitine plasma-membrane transporter deficiency
  • Carnitine transporter 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.

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 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.
  • ClinicalTrials.gov lists trials that are studying or have studied Primary carnitine deficiency. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
Other Names for this Disease
  • Systemic primary carnitine deficiency
  • Carnitine uptake defect
  • Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine
  • Carnitine plasma-membrane transporter deficiency
  • Carnitine transporter 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.