A study on the diagnosis and pathophysiology of carnitine deficiency

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Deficiency of carnitine transporter, a product of OCTN2 gene, causes a primary carnitine deficiency. First, this study surveyed the prevalence and clinical presentation of OCTN2 deficiency among the carnitine deficiency. Acylcarnitine analysis identified 269 cases of carnitine deficiency out of 2,694 subjects. Two cases had heterozygous mutation, S467C/WT and V465A/WT, respectively. This result suggests that catabolic state upon infection or poor nutrition can trigger metabolic decompensation even in the heterozygous carrier of OCTN2 mutation.Second, our study established a method for functional analysis of carnitine transporter using cultured skin fibroblast. The ratio of intracellular carnitine/extracellular free carnitine in OCTN2 deficiency was significantly lower than in normal controls. This method also enables to evaluate intracellular acylcarnitine profile simultaneously as well as extracellular acylcarnitine profile using conventional method. Further application of this strategy for the functional analysis of fatty acid oxidation is expected.