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

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.

News & Events


ORDR Co-Sponsored Conferences

  • 2016 Rare Disease Day at NIH, Monday, February 29, 2016
    Location: Building 10, Masur Auditorium, National Institutes of Health, Bethesda, MD
    Description: The 2016 Rare Disease Day at NIH will take place on February 29. The event, sponsored by NCATS and the NIH Clinical Center, aims to raise awareness about rare diseases, the patients they affect and the research collaborations that are addressing rare disease challenges. The day will feature tours, posters and exhibits, and presentations.

  • Research Challenges in CNS Manifestations of Inborn Errors of Metabolism Workshop, Monday, December 07, 2009 - Wednesday, December 09, 2009
    Location: Bethesda North Marriott, Bethesda, Maryland
    Description: Jointly sponsored by the National Institute of Health's Office Rare Diseases Research, the National Institute of Neurological Disorders and Stroke, and the Food and Drug Administration's Center for Drug Evaluation and Research, Division of Gastroenterology Products, the goal of this workshop is to bring together those involved in research and investigational treatments for central nervous system aspects of inborn errors of metabolism, and to discuss ways to translate these therapies to clinical trials and beyond.

Other Conferences

  • The International Network for Fatty Acid Oxidation Research and Management (INFORM) has been formed in order to promote research and discussion into the cause, diagnosis, and management of inborn errors of fatty acid oxidation. INFORM will sponsor an inaugural symposium to be held on September 6, 2014 in Innsbruck, Austria following SSIEM, with annual meetings thereafter. The Network will provide a collaborative framework for ongoing communication and research between the members.
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.