Journal of Inherited Metabolic Disease

, Volume 19, Issue 4, pp 521–527

Clinical presentation of mitochondrial disorders in childhood

  • A. Munnich
  • A. Rötig
  • D. Chretien
  • V. Cormier
  • T. Bourgeron
  • J. -P. Bonnefont
  • J. -M. Saudubray
  • P. Rustin
Article

DOI: 10.1007/BF01799112

Cite this article as:
Munnich, A., Rötig, A., Chretien, D. et al. J Inherit Metab Dis (1996) 19: 521. doi:10.1007/BF01799112

Summary

Respiratory-chain deficiencies have long been regarded as neuromuscular diseases. In fact, oxidative phosphorylation, i.e. adenosine triphosphate (ATP) synthesis by the respiratory chain, does not occur only in the neuromuscular system. Indeed, a number of non-neuromuscular organs and tissues are dependent upon mitochondrial energy supply. For this reason, a respiratory-chain deficiency can theoretically give rise to any symptom, in any organ or tissue, at any age and with any mode of inheritance, owing to the twofold genetic origin of respiratory enzymes (nuclear DNA and mitochondrial DNA, mtDNA). In recent years, it has become increasingly clear that genetic defects of oxidative phosphorylation account for a large variety of clinical symptoms in childhood. Among 100 patients with respiratory-chain deficiencies identified in our centre, 56% presented with a non-neuromuscular symptom and 44% were referred for a neuromuscular problem. It appears that the diagnosis of a respiratory-chain deficiency is difficult initially when only one symptom is present. In contrast, this diagnosis is easier to consider when two seemingly unrelated symptoms are observed

Copyright information

© SSIEM and Kluwer Academic Publishers 1996

Authors and Affiliations

  • A. Munnich
    • 1
  • A. Rötig
    • 1
  • D. Chretien
    • 1
  • V. Cormier
    • 1
  • T. Bourgeron
    • 1
  • J. -P. Bonnefont
    • 1
  • J. -M. Saudubray
    • 1
  • P. Rustin
    • 1
  1. 1.Département de Génétique et Unité de Recherches sur les Handicaps Génétiques de l'Enfant — Unité INSERM U-393Hôpital des Enfants MaladesParis Cedex 15France