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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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Living With

Medical Resources

  • You can submit a question to Ask the Mito DocSM , a service of the United Mitochondrial Diseases Foundation. Information contained in Ask the Mito DocSM is for informational and educational purposes only.

Genetics Resources

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.