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Disorders of Bile Acid Synthesis

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Inborn Metabolic Diseases

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Abstract

Two inborn errors of metabolism affect the modifications of the cholesterol nucleus in both major pathways for bile acid synthesis: 3β-hydroxy-∆5-C27-steroid dehydrogenase (3 β-dehydrogenase) deficiency and ∆4-3-oxosteroid 5β-reductase (5β-reductase) deficiency. These disorders produce cholestatic liver disease and malabsorption of fat and fat-soluble vitamins. Onset of symptoms is usually in the 1st year of life and, if left untreated, the liver disease can progress to cirrhosis and liver failure.

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Author information

Authors and Affiliations

  1. Biochemistry Unit Institute of Child Health, Great Ormond Street Hospital for Sick Children, 30 Guilford Street, WC1N 1EH, London, UK

    Peter T. Clayton

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  1. Peter T. Clayton
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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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Clayton, P.T. (2012). Disorders of Bile Acid Synthesis. 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_34

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  • DOI: https://doi.org/10.1007/978-3-642-15720-2_34

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-15719-6

  • Online ISBN: 978-3-642-15720-2

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