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Article

Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.

Human mutation - 1 Aug 2010

Li Fang-Yuan, El-Hattab Ayman W, Bawle Erawati V, Boles Richard G, Schmitt Eric S, Scaglia Fernando, Wong Lee-Jun

Abstract excerpt

Systemic primary carnitine deficiency (CDSP) is caused by recessive mutations in the SLC22A5 (OCTN2) gene encoding the plasmalemmal carnitine transporter and characterized by hypoketotic hypoglycemia, and skeletal and cardiac myopathy. The entire coding regions of the OCTN2 gene were sequenced in 143 unrelated subjects suspected of having CDSP. In 70 unrelated infants evaluated because of abnormal newborn...

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PMID: 20574985
DOI: 10.1002/humu.21311

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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