Clinical aspects of mitochondrial disorders

J Inherit Metab Dis. 1992;15(4):448-55. doi: 10.1007/BF01799603.


Mitochondrial disorders have long been regarded as neuromuscular diseases only. In fact, owing to the ubiquitous nature of the oxidative phosphorylation, a broad spectrum of clinical features should be expected in mitochondrial disorders. Here, we present eight puzzling observations which give support to the view that a disorder of oxidative phosphorylation can give rise to any symptom in any organ or tissue with any apparent mode of inheritance. Consequently, we suggest giving consideration to the diagnosis of a mitochondrial disorder when dealing with an unexplained association of symptoms, with an early onset and a rapidly progressive course involving seemingly unrelated organs. Determination of lactate/pyruvate and ketone body molar ratios in plasma can help to select patients at risk for this condition.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Coma / genetics
  • DNA, Mitochondrial / genetics*
  • Diabetes Mellitus / genetics
  • Dwarfism / genetics
  • Female
  • Heart Diseases / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Ketone Bodies / blood
  • Kidney Diseases / genetics
  • Lactates / blood
  • Lactic Acid
  • Liver Diseases / genetics
  • Male
  • Metabolism, Inborn Errors / complications
  • Metabolism, Inborn Errors / genetics*
  • Metabolism, Inborn Errors / physiopathology
  • Mitochondria / enzymology*
  • Oxidation-Reduction
  • Oxidative Phosphorylation
  • Pancytopenia / genetics
  • Pyruvates / blood
  • Pyruvic Acid


  • DNA, Mitochondrial
  • Ketone Bodies
  • Lactates
  • Pyruvates
  • Lactic Acid
  • Pyruvic Acid