Article
Late-onset form of beta-electron transfer flavoprotein deficiency.
Molecular genetics and metabolism - 1 Apr 2003
Curcoy A, Olsen R K J, Ribes A, Trenchs V, Vilaseca M A, Campistol J, Osorio J H, Andresen B S, Gregersen N
Abstract excerpt
Multiple acyl-CoA-dehydrogenase deficiency (MADD) or glutaric aciduria type II (GAII) are a group of metabolic disorders due to deficiency of either electron transfer flavoprotein (ETF) or electron transfer flavoprotein ubiquinone oxidoreductase (ETF-QO). We report the clinical features and biochemical and molecular genetic analyses of a patient with a mild late-onset form of GAII due to beta-ETF deficiency....
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