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Disorders of Fructose Metabolism

  • Chapter
Inborn Metabolic Diseases

Abstract

Three inborn errors are known in the pathway of fructose metabolism depicted in ◘ Fig. 9.1. Essential fructosuria is a harmless anomaly characterised by the appearance of fructose in the urine after the intake of fructose-containing food. In hereditary fructose intolerance (HFI), fructose may provoke prompt gastrointestinal discomfort and hypoglycaemia upon ingestion, symptoms that may vary from patient to patient and depend on the ingested dose. Fructose may cause liver and kidney failure when taken persistently, and its intake becomes life threatening when it is given intravenously. Fructose-1,6-bisphosphatase (FBPase) deficiency is also usually considered an inborn error of fructose metabolism although, strictly speaking, it is a defect of gluconeogenesis.

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Author information

Authors and Affiliations

  1. Division of Metabolism, University Children’s Hospital, Steinwiesstrasse 75, 8032, Zürich, Switzerland

    Beat Steinmann

  2. Department of Pediatrics, University Medical Centre Hamburg Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany

    René Santer

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  1. Beat Steinmann
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  2. René Santer
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Editor information

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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© 2012 Springer-Verlag Berlin Heidelberg

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Steinmann, B., Santer, R. (2012). Disorders of Fructose Metabolism. 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_9

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  • DOI: https://doi.org/10.1007/978-3-642-15720-2_9

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-15719-6

  • Online ISBN: 978-3-642-15720-2

  • eBook Packages: MedicineMedicine (R0)

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