A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

Int J Neurosci. 2018 Mar;128(3):291-294. doi: 10.1080/00207454.2017.1380641. Epub 2017 Oct 9.

Abstract

Aim of the study: To report a novel mutation in the electron transfer flavoprotein dehydrogenase (ETFDH) gene in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Materials and methods: The genomic DNAs from a patient whose main clinical presentations are muscles weakness and hypoglycemia was analysed.

Results: The patient was identified to carry compound heterozygous mutations in ETFDH gene. Two missense mutations c.814 G > A and c.389 A > T were found.

Conclusion: This is the first report of c.814G > A mutation in ETFDH in adult patient with MADD.

Keywords: ETFDH; MADD; mutation; novel.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Electron-Transferring Flavoproteins / genetics*
  • Female
  • Humans
  • Iron-Sulfur Proteins / genetics*
  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency / genetics*
  • Mutation, Missense / genetics*
  • 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