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J Inherit Metab Dis. 2004;27(6):778-80.

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.

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Department of Pathology, Children's and Women's Health Center of B.C., Vancouver V6H 3N1, Canada.


The carnitine transporter defect (McKusick 212140) is an autosomal recessive disorder caused by mutations in the SLC22A5 gene, which encodes the high-affinity carnitine transporter OCTN2 (Wang et al 2001). Diagnosis is suspected when plasma carnitine levels are extremely low and secondary causes of carnitine loss are excluded. The disease can present with recurrent Reye-like episodes of hypoketotic hypoglycaemia or with cardiomyopathy associated with myopathy (Stanley et al 1991). Here we report novel clinical findings in a 3-year-old with primary carnitine deficiency.

[Indexed for MEDLINE]

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