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Disorders of Ketogenesis and Ketolysis

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Inborn Metabolic Diseases

Abstract

Disorders of ketone-body metabolism present either in the first few days of life or later in childhood, during an infection or some other metabolic stress. In defects of ketogenesis, decompensation leads to encephalopathy with vomiting and a reduced level of consciousness, often accompanied by hepatomegaly. The biochemical features (hypoketotic hypoglycaemia with or without hyperammonaemia) resemble those seen in fatty-acid-oxidation disorders. In defects of ketolysis, the presentation is dominated by severe ketoacidosis. This is often accompanied by decreased consciousness and dehydration.

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Authors
  1. A. A. M. Morris
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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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Morris, A.A.M. (2000). Disorders of Ketogenesis and Ketolysis. 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_12

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  • DOI: https://doi.org/10.1007/978-3-662-04285-4_12

  • 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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