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Lamhonwah AM, Onizuka R, Olpin SE, Muntoni F, Tein I

Primary carnitine deficiency is a rare autosomal recessive genetic disease affecting 1:40 000-1:120 000 individuals.2 It is caused by the presence of 2 mutated alleles (either in homozygosity or 2 mutations in compound heterozygosity) in SLC22A5, which codes for the OCTN2 transporter, responsible for intracellular carnitine transport