Abstract
The complex organic acidopathy known as multiple acyl-CoA dehydrogenase deficiency (MACD) appears to involve a spectrum of clinical severity with the more severe phenotypes being represented by glutaric aciduria type II (GAII; McKusick 23168) (Goodman et al., 1982) and the less severe phenotypes being represented by ethylmalonic-adipic aciduria (EMAuria McKusick 22717) (Mantagos et al., 1979). Survival beyond the newborn period in GAII cases is rare. The molecular defect appears to involve deficient electron transferring flavoprotein (ETF) or its dehydrogenase (Goodman et al., 1983). In contrast, cases of EMAuria do survive with treatment. The exact molecular defect remains unclear, but some cases appear to respond to riboflavin (Gregerson et al., 1982).
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Verjee, Z.H., Sherwood, W.G. (1985). Multiple Acyl-CoA Dehydrogenase Deficiency: A Neonatal Onset Case Responsive to Treatment. In: Addison, G.M., Bartlett, K., Harkness, R.A., Pollitt, R.J. (eds) Inherited Disorders of Vitamins and Cofactors. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-8019-1_41
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DOI: https://doi.org/10.1007/978-94-011-8019-1_41
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