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Defects of the Respiratory Chain

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Inborn Metabolic Diseases

Abstract

Respiratory chain deficiencies have long been regarded as neuromuscular diseases. However, oxidative phosphorylation (i.e., ATP synthesis by the respiratory chain) is not restricted to the neuromuscular system but proceeds in all cells that contain mitochondria (Fig. 13.1). Most non-neuromuscular organs and tissues are, therefore, also dependent upon mitochondrial energy supply. Therefore, due to the twofold genetic origin of respiratory enzymes [nuclear DNA and mitochondrial (mtDNA)] 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.

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Authors
  1. Arnold Munnich
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Editors and Affiliations

  1. Veldweg 87, 8051 NP, Hattem, The Netherlands

    John Fernandes (Professor Emeritus of Pediatrics) (Professor Emeritus of Pediatrics)

  2. Hospital Necker-Enfants Malades, 149 Rue de Sevres, 75743, Paris Cedex 15, France

    Jean-Marie Saudubray

  3. Institute of Cellular Pathology, Université Catholique de Louvain, Avenue Hippocrate 75, 1200, Brussels, Belgium

    Georges Van den Berghe (Christian de Duve) (Christian de Duve)

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© 2000 Springer-Verlag Berlin Heidelberg

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Munnich, A. (2000). Defects of the Respiratory Chain. In: Fernandes, J., Saudubray, JM., Van den Berghe, G. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-04285-4_13

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  • DOI: https://doi.org/10.1007/978-3-662-04285-4_13

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-04287-8

  • Online ISBN: 978-3-662-04285-4

  • eBook Packages: Springer Book Archive

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