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Primary carnitine deficiency PCD is a rare genetic disease caused by mutations in the SLC22A5 gene, which leads to dysfunction of the carnitine transporter OCTN2, thereby hindering the entry of carnitine from the blood into cells and the reabsorption of carnitine by the kidneys

Acknowledgements The authors are supported by US NIH grants R01-DK55758, R01-DK099110, R01-DK127274, R01-DK143576 and R01-DK131537 and P01-AG051459 to P.E.S