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Journal of Inherited Metabolic Disease

, Volume 15, Issue 4, pp 448–455 | Cite as

Clinical aspects of mitochondrial disorders

  • A. Munnich
  • P. Rustin
  • A. Rötig
  • D. Chretien
  • J.-P. Bonnefont
  • C. Nuttin
  • V. Cormier
  • A. Vassault
  • P. Parvy
  • J. Bardet
  • C. Charpentier
  • D. Rabier
  • J.-M. Saudubray
Mitochondrial DNA And Associated Disorders

Summary

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.

Keywords

Public Health Internal Medicine Ketone Metabolic Disease Broad Spectrum 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© SSIEM and Kluwer Academic Publishers 1992

Authors and Affiliations

  • A. Munnich
    • 1
  • P. Rustin
    • 1
  • A. Rötig
    • 1
  • D. Chretien
    • 1
  • J.-P. Bonnefont
    • 1
  • C. Nuttin
    • 1
  • V. Cormier
    • 1
  • A. Vassault
    • 1
  • P. Parvy
    • 1
  • J. Bardet
    • 1
  • C. Charpentier
    • 1
  • D. Rabier
    • 1
  • J.-M. Saudubray
    • 1
  1. 1.Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-12, Département de Pédiatrie and Départment de BiochimieHôpital des Enfants-MaladesParis Cedex 15France

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