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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 only. 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. 15.1). Most non-neuromuscular organs and tissues are, therefore, also dependent upon mitochondrial energy supply. 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.

The diagnosis of a respiratory chain deficiency is difficult to consider initially when only one abnormal symptom is present. In contrast, this diagnosis is easier to consider when two or more seemingly unrelated symptoms are observed. The treatment, mainly dietetic, does not markedly influence the usually unfavorable course of the disease.

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Author information

Authors and Affiliations

  1. Département de Génétique Médicale, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743, Paris Cedex 15, France

    Arnold Munnich

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  1. Arnold Munnich
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Editors and Affiliations

  1. Department of Pediatrics, University Hospital Groningen, Burgemeester Weertslaan 31, 8162 DP, Epe, The Netherlands

    John Fernandes

  2. Unité de Métabolisme, Département de Pédiatrie, Hôpital Necker Enfants Malades, 149 Rue de Sèvres, 75043, Paris Cedex 15, France

    Jean-Marie Saudubray

  3. Metabolic Research Group, Christian de Duve Institute of Cellular Pathology, University of Louvain Medical School, Avenue Hippocrate 75-39, 1200, Brussels, Belgium

    Georges van den Berghe

  4. Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Hospital Road, Pendlebury, Manchester, M27 4HA, UK

    John H. Walter

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© 2006 Springer Medizin Verlag Heidelberg

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Munnich, A. (2006). Defects of the Respiratory Chain. In: Fernandes, J., Saudubray, JM., van den Berghe, G., Walter, J.H. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg . https://doi.org/10.1007/978-3-540-28785-8_15

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  • DOI: https://doi.org/10.1007/978-3-540-28785-8_15

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-28783-4

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