What causes primary carnitine deficiency?

Updated: Dec 13, 2019
  • Author: Fernando Scaglia, MD, FACMG; Chief Editor: Maria Descartes, MD  more...
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Answer

Primary carnitine deficiency is caused by a defect in the plasma membrane carnitine transporter in kidney and muscle. The lack of the plasma membrane carnitine transporter OCTN2 results in urinary carnitine wasting and in decreased intracellular carnitine accumulation. Causative mutations in a gene called SLC22A5 are responsible for this condition.


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