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Mol Genet Metab. 2006 Jun;88(2):153-8. Epub 2006 Feb 28.

Electron transfer flavoprotein deficiency: functional and molecular aspects.

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  • 1Centre de Référence Maladies Héréditaires du Métabolisme, Service de Biochimie Pédiatrique, Hôpital Debrousse, Lyon, France. manuel.schiff@chu-lyon.fr

Abstract

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a recessively inherited metabolic disorder that can be due to a deficiency of electron transfer flavoprotein (ETF) or its dehydrogenase (ETF-ubiquinone oxidoreductase). ETF is a mitochondrial matrix protein consisting of alpha- (30kDa) and beta- (28kDa) subunits encoded by the ETFA and ETFB genes, respectively. In the present study, we have analysed tissue samples from 16 unrelated patients with ETF deficiency, and we report the results of ETF activity, Western blot analysis and mutation analysis. The ETF assay provides a reliable diagnostic tool to confirm ETF deficiency in patients suspected to suffer from MADD. Activity ranged from less than 1 to 16% of controls with the most severely affected patients disclosing the lowest activity values. The majority of patients had mutations in the ETFA gene while only two of them harboured mutations in the ETFB gene. Nine novel disease-causing ETF mutations are reported.

PMID:
16510302
[PubMed - indexed for MEDLINE]
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