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Article

Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.

Human mutation - 1 Nov 2000

Wang Y, Taroni F, Garavaglia B, Longo N

Abstract excerpt

Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. This disease is caused by mutations in the novel organic cation transporter OCTN2 (SLC22A5 gene). The disease can present early in life with hypoketotic hypoglycemia or later in life with skeletal myopathy or cardiomyopathy. To determine whether the variation in phenotypic severity is...

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PMID: 11058897
DOI: 10.1002/1098-1004(200011)16:5<401::AID-HUMU4>3.0.CO;2-J

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Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.PMID 11058897Read ↗

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