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Article

Phenotype and genotype variation in primary carnitine deficiency.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Wang Y, Korman S H, Ye J, Gargus J J, Gutman A, Taroni F, Garavaglia B, Longo N

Abstract excerpt

PURPOSE: Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation resulting from defective carnitine transport. This disease is caused by mutations in the carnitine transporter gene SLC22A5. The objective of this study was to extend mutational analysis to four additional families with this disorder and determine whether recurrent mutations could be found. METHODS: The SLC22A5 gene...

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PMID: 11715001
DOI: 10.1097/00125817-200111000-00002

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