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

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

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Electron Transport / genetics*
  • Electron-Transferring Flavoproteins / deficiency*
  • Electron-Transferring Flavoproteins / genetics*
  • Genetic Carrier Screening
  • Humans
  • Iron-Sulfur Proteins / deficiency*
  • Iron-Sulfur Proteins / genetics*
  • Lipid Metabolism Disorders / diagnosis
  • Lipid Metabolism Disorders / enzymology
  • Lipid Metabolism Disorders / genetics
  • Male
  • Mitochondrial Diseases / diagnosis
  • Mitochondrial Diseases / enzymology*
  • Mitochondrial Diseases / genetics*
  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency / diagnosis
  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency / enzymology*
  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency / genetics*
  • Mutation, Missense / genetics*
  • Oxidoreductases Acting on CH-NH Group Donors / deficiency*
  • Oxidoreductases Acting on CH-NH Group Donors / genetics*

Substances

  • Electron-Transferring Flavoproteins
  • Iron-Sulfur Proteins
  • Oxidoreductases Acting on CH-NH Group Donors
  • electron-transferring-flavoprotein dehydrogenase