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PCD is characterized by low plasma carnitine levels, reduced intracellular carnitine, and increased urinary loss.[5] Carnitine is transported intracellularly via OCTN2, which is expressed predominantly in skeletal and cardiac muscles, and kidneys.[3] Decreased OCTN2 on the plasma membrane results in a reduced intracellular update of carnitine.[5] In kidneys, this results in reduced reabsorption of carnitine, and patients with PCD may lose up to 95% of the filtered carnitine in the urine.[6] The parents of a child with PCD, who are heterozygous carriers, may lose twice or thrice the levels of normal urinary excretion.[6] The plasma concentration of acyl-carnitine esters is also low in PCD.[5] Epidemiology The incidence of Primary carnitine deficiency is different based on ethnicity

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