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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Primary carnitine deficiency


Other Names for this Disease

  • Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine
  • Carnitine plasma-membrane transporter deficiency
  • Carnitine transporter deficiency
  • Carnitine uptake defect
  • Carnitine uptake deficiency
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Cause

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What causes primary carnitine deficiency?

Mutations in the SLC22A5 gene cause primary carnitine deficiency. This gene provides instructions for making a protein called OCTN2 that transports carnitine into cells. Cells need carnitine to bring certain types of fats (fatty acids) into mitochondria, which are the energy-producing centers within cells. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues.

Mutations in the SLC22A5 gene result in an absent or dysfunctional OCTN2 protein. As a result, there is a shortage (deficiency) of carnitine within cells. This deficiency, as well as potential build-up of fatty acids within the cells, causes the signs and symptoms of the condition.[1]
Last updated: 7/9/2012

References
  1. Primary carnitine deficiency. Genetics Home Reference. July 2006; http://www.ghr.nlm.nih.gov/condition/primary-carnitine-deficiency. Accessed 7/9/2012.


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