[Diabetes and hearing impairment due to mitochondrial mutation]

Ugeskr Laeger. 2014 Sep 15;176(38):V05130313.
[Article in Danish]

Abstract

Mutations in the mitochondrial genome can cause mitochondrial diabetes. We present two cases in which the same mutation, mtDNA3243A>G, caused two different phenotypes: maternally inherited diabetes and deafness and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. Mitochondrial disease can imitate a variety of common con-ditions and should be considered in the case of multisystem disease, complex neurological symptoms or neurological symptoms combined with symptoms of other organ systems.

Publication types

  • Case Reports

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Deafness / complications
  • Deafness / genetics*
  • Diabetes Mellitus, Type 2 / complications
  • Diabetes Mellitus, Type 2 / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • MELAS Syndrome / complications
  • MELAS Syndrome / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Pedigree
  • Young Adult

Substances

  • DNA, Mitochondrial