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Disorders of Ketogenesis and Ketolysis

  • Chapter
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 clinical picture is dominated by severe ketoacidosis. This is often accompanied by decreased consciousness and dehydration.

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Author information

Authors and Affiliations

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

    Andrew A. M. Morris

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  1. Andrew A. M. Morris
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Editor information

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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Morris, A.A.M. (2006). Disorders of Ketogenesis and Ketolysis. 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_14

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  • DOI: https://doi.org/10.1007/978-3-540-28785-8_14

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-28783-4

  • Online ISBN: 978-3-540-28785-8

  • eBook Packages: MedicineMedicine (R0)

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