Multiple Acyl-CoA-dehydrogenase deficiency (MADD) - A novel mutation of electron-transferring-flavoprotein dehydrogenase ETFDH

This is the case of a 41 year old man, suffering general weakness and elevated liver enzymes, sensitive to a treatment with riboflavin and coenzyme Q(10). Tandem mass spectroscopy and molecular analysis reveal a multiple acyl-CoA-dehydrogenase deficiency (MADD) with two novel heterozygote missense mutations of the EFTDH gene. (C) 2011 Elsevier B.V. All rights reserved.