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Article

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

Journal of inherited metabolic disease - 1 Jan 2004

Makhseed N, Vallance H D, Potter M, Waters P J, Wong L T K, Lillquist Y, Pasquali M, Amat di San Filippo C, Longo N

Abstract excerpt

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...

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Identifiers

PMID: 15617188
DOI: 10.1023/b:boli.0000045837.23328.f4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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