systemic carnitine deficiency

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A disorder in which there are low carnitine concentrations in tissues other than muscle, caused by mutations in the SLC22A5 gene which encodes OctN2, leading to increased urinary losses of carnitine. Myopathic carnitine deficiency is caused by mutation in a different locus and the carnitine deficiency is restricted to muscle.

Subjects: Medicine and Health.

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