G.P.3.11 Novel ETFDH mutations and normal CoQ10 level in Taiwanese patients with multiple acyl-CoA dehydrogenase deficiency

Abstract

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a clinically heterogeneous disorder mainly caused by mutations in the genes for electron transfer flavoprotein (ETF) and ETF-ubiquinone oxidoreductase (ETF-QO). Mutations in ETFDH, which encodes for ETF-QO has been associated with myopathic form of CoQ10 deficiency, riboflavin-responsive MADD, and riboflavin-nonresponsive MADD, although the underlying mechanism of these different phenotypes is still unclear. We identified three novel mutations in ETFDH in four Taiwanese riboflavin-responsive MADD patients from three unrelated families.