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Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies

  • Metabolic Diseases
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Abstract

We describe eight children with complex I deficiency, four of them with an isolated, the other four with an additional deficiency of complex IV. Clinical, chemical and morphological findings were compared from patients with isolated and combined deficiency. In both groups, the age of onset of symptoms was between the 1st day and the 4th month of life. Clinical and biochemical heterogeneity were observed. We found no correlation between residual activity of complex I in muscle, blood lactate level, and severity of clinical symptoms. Newborns presenting with severe lactic acidosis and children with later onset myopathy were seen in both groups. The group with combined complex I deficiency showed a more severe clinical course. By light microscopy ragged red fibres were only found in two patients with combined deficiency. However, by electron microscopy structural alterations of the mitochondria were observed in six out of seven muscle specimens.

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Abbreviations

CI:

complex I (NADH dehydrogenase)

CID:

complex I deficiency

CIV:

complex IV (cytochrome c oxidase)

CS:

citrate synthase

NADH:

reduced nicotinamide adenine dinucleotide

RRF:

ragged-red fibres

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Authors and Affiliations

  1. Department of Paediatrics, University of Nijmegen, Nijmegen, The Netherlands

    G. -C. Korenke, H. A. C. M. Bentlage, W. Ruitenbeek, R. C. A. Sengers, W. Sperl & J. M. F. Trijbels

  2. Department of Neurology, University of Nijmegen, Nijmegen, The Netherlands

    F. J. M. Gabreels

  3. Department of Paediatrics, University Hospital of Amsterdam, Amsterdam, The Netherlands

    F. A. Wijburg

  4. Universitätskinderklinik, Allgemeines Krankenhaus, Wien, Austria

    V. Wiedermann

  5. Universitätskinderklinik, Kinderheilkunde/Neuropädiatrie, Robert-Koch-Strasse 40, W-3400, Göttingen, Germany

    F. Hanefeld

  6. Zentrum für Kinderheilkunde der Heinrich-Heine-Universität, Düsseldorf, Germany

    U. Wendel & M. Reckmann

  7. Universitätskinderklinik, Abteilung Entwicklungsneurologie, Tübingen, Germany

    V. Griebel

  8. Städtische Kliniken Kassel, Abteilung für Neuropädiatrie, Kassel, Germany

    H. Wölk

Authors
  1. G. -C. Korenke
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  2. H. A. C. M. Bentlage
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  3. W. Ruitenbeek
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  4. R. C. A. Sengers
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  5. W. Sperl
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  6. J. M. F. Trijbels
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  7. F. J. M. Gabreels
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  8. F. A. Wijburg
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  9. V. Wiedermann
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  10. F. Hanefeld
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  11. U. Wendel
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  13. V. Griebel
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  14. H. Wölk
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Korenke, G.C., Bentlage, H.A.C.M., Ruitenbeek, W. et al. Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies. Eur J Pediatr 150, 104–108 (1990). https://doi.org/10.1007/BF02072049

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  • DOI: https://doi.org/10.1007/BF02072049

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