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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
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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.