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J Neurol Sci. 2011 Aug 15;307(1-2):166-7. doi: 10.1016/j.jns.2011.05.001. Epub 2011 May 25.

Multiple acyl-CoA-dehydrogenase deficiency (MADD)--a novel mutation of electron-transferring-flavoprotein dehydrogenase ETFDH.

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1
Department of Neurology, University of Erlangen, Schwabachanlage 6, 91054 Erlangen, Germany. alexandra.laemmer@uk-erlangen.de

Abstract

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.

PMID:
21616504
DOI:
10.1016/j.jns.2011.05.001
[Indexed for MEDLINE]
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