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Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle

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Inborn Metabolic Diseases

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Abstract

Owing to the role of pyruvate and the tricarboxylic acid (TCA) cycle in energy metabolism, as well as in gluconeogenesis, lipogenesis and amino acid synthesis, defects in pyruvate metabolism and in the TCA cycle almost invariably affect the central nervous system. The severity and the different clinical phenotypes vary widely among patients and are not always specific, the range of manifestations extending from overwhelming neonatal lactic acidosis and early death to relatively normal adult life and variable effects on systemic functions. The same clinical manifestations may be caused by other defects of energy metabolism, especially defects of the respiratory chain (► Chapter 15). Diagnosis depends primarily on biochemical analyses of metabolites in body fluids, followed by definitive enzymatic assays in cells or tissues, and DNA analysis.

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Authors and Affiliations

  1. Department of Pediatrics Academisch Ziekenhuis, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090, Brussels, Belgium

    Linda J. De Meirleir

  2. Laboratoire de Biochimie, Hôpital de Bicêtre, 78 Rue de General Leclerc, 94275, Kremlin, France

    Michèle Brivet

  3. Servicio de Neurologia, Hospital Sant Joan de Deu, Passeig Sant Joan de Deu 2, 08950, Barcelona, Spain

    Angels Garcia-Cazorla

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  1. Linda J. De Meirleir
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  2. Michèle Brivet
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  3. Angels Garcia-Cazorla
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Editors and Affiliations

  1. Department of Neurology Neurometabolic Unit, Hôpital Pitié Salpêtrière 47–83 Boulevard de l’Hôpital, Paris Cedex 13, 75651, Paris, France

    Jean-Marie Saudubray

  2. Laboratory of Physiological Chemistry de Duve Institute, University of Louvain Medical School, Avenue Hippocrate 75/39, 1200, Brussels, Belgium

    Georges van den Berghe

  3. Biochemical Genetics Unit Manchester Academic Health Science Centre, Central Manchester University Hospitals St Mary’s Hospital, Oxford Road, M13 9WL, Manchester, UK

    John H. Walter

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De Meirleir, L.J., Brivet, M., Garcia-Cazorla, A. (2012). Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle. In: Saudubray, JM., van den Berghe, G., Walter, J.H. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-15720-2_12

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