Abstract
The multiple acyl-CoA dehydrogenation disorders (MADD), which include a severe variant, glutaric aciduria type II (MADD/S; GA-II; McKusick 30595; Przyrembel et al., 1976) and a mild variant, ethyl-malonic—adipic aciduria (MADD/M; EMA; McKusick 23168; Mantagos et al., 1979) are clinically and biochemically related inborn errors of organic acid metabolism. We and others have suggested that they are caused by deficient electron transfer from the acyl-CoA dehydrogenases (ADH; EC 1.3.99) to the electrontransport chain (Goodman et al., 1982; Rhead et al., 1980). Our preliminary data now demonstrate electron-transferring flavoprotein (ETF) deficiency in several cases of GA-II and EMA.
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© 1984 SSIEM and MTP Press Limited, Queen Square, Lancaster
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Rhead, W.J., Amendt, B.A. (1984). Electron-transferring Flavoprotein Deficiency in the Multiple Acyl-CoA Dehydrogenation Disorders, Glutaric Aciduria Type II and Ethylmalonic—adipic Aciduria. In: Addison, G.M., Chalmers, R.A., Divry, P., Harkness, R.A., Pollitt, R.J. (eds) Organic Acidurias. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-5612-4_24
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DOI: https://doi.org/10.1007/978-94-009-5612-4_24
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