European Journal of Pediatrics

, Volume 148, Issue 2, pp 92–97

Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach

  • J. M. F. Trijbels
  • R. C. A. Sengers
  • W. Ruitenbeek
  • J. C. Fischer
  • J. A. J. M. Bakkeren
  • A. J. M. Janssen
Review

DOI: 10.1007/BF00445910

Cite this article as:
Trijbels, J.M.F., Sengers, R.C.A., Ruitenbeek, W. et al. Eur J Pediatr (1988) 148: 92. doi:10.1007/BF00445910

Abstract

The clinical identification of patients with defects in the mitochondrial respiratory chain is almost impossible. We describe screening tests that should be performed in order to select those patients in whom a skeletal muscle biopsy should be carried out for more specific biochemical assays. The importance of performing in vivo function tests is stressed. The biochemical diagnosis in disorders of the respiratory chain is presented and the application of immunological methods discussed.

Key words

Mitochondrial myopathy Electron transport chain Metabolic screening 

Abbreviations

ATP

adenosine triphosphate

CoA

coenzyme A

DCPIP

2,6-dichlorophenol indophenol

KCN

potassium cyanide

NAD+

nicotinamide adenine dinucleotide (oxidized)

NADH

nicotinamide adenine dinucleotide (reduced)

PMS

phenazine methosulfate

Copyright information

© Springer-Verlag 1988

Authors and Affiliations

  • J. M. F. Trijbels
    • 1
  • R. C. A. Sengers
    • 1
  • W. Ruitenbeek
    • 1
  • J. C. Fischer
    • 1
  • J. A. J. M. Bakkeren
    • 1
  • A. J. M. Janssen
    • 1
  1. 1.Department of PaediatricsUniversity of NijmegenNijmegenThe Netherlands

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