Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency

Jan Rasmussen,A M Lund,Lotte Risom,Flemming Wibrand,Hannes Gislason,Olav Wendelboe Nielsen,Lars Kober,Morten Duno

Molecular Genetics and Metabolism Reports（2014）

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摘要

There was a significant positive correlation between carnitine levels and OCTN2 transporter activities. The c.95A > G/c.95A > G genotype had the significantly lowest mean free carnitine level and residual OCTN2 transporter activity.

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Primary carnitine deficiency,OCTN2,SLC22A5,The Faroe Islands

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