Article
Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency.
Molecular genetics and metabolism - 1 Dec 2005
Spaan András N, Ijlst Lodewijk, van Roermund Carlo W T, Wijburg Frits A, Wanders Ronald J A, Waterham Hans R
Abstract excerpt
Multiple acyl-CoA dehydrogenase deficiency (MADD) or glutaric aciduria type II (GAII) is most often caused by mutations in the genes encoding the alpha- or beta-subunit of electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETF-DH). Since not all patients have mutations in these genes, other as yet unidentified genes are predicted to be involved as well. Because all affected...
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