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Disorders of Bile Acid Synthesis

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Inborn Metabolic Diseases

Zusammenfassung

Most of the known enzyme deficiencies of bile acid synthesis affect both the 27-hydroxycholesterol and the 7α-hydroxycholesterol pathways; the exceptions are cholesterol 7α-hydroxylase deficiency and oxysterol 7α-hydroxylase deficiency. Because of the broad specificity of many of the enzymes, the major metabolites are often not those immediately proximal to the block. For instance, in 3β-hydroxy-∆5-C27-steroid dehydrogenase deficiency the major metabolite is not 7α-hydroxycholesterol but a series of unsaturated bile acids that have the normal bile acid side chain but persistence of the 3β, 7α-dihydroxy-∆5 structure of the nucleus.

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Authors and Affiliations

  1. Genetics and Genomic Medicine, UCL Institute of Child Health, Great Ormond Street Hospital for Children, 30 Guilford Street, WC1N 1EH, London, UK

    Peter T. Clayton

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  1. Peter T. Clayton
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Correspondence to Peter T. Clayton .

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Editors and Affiliations

  1. Department of Neurology, Neurometabolic Unit, Hôpital Pitié Salpêtrière, Paris, France

    Jean-Marie Saudubray

  2. Division of Metabolism, University Children’s Hospital, Zurich, Switzerland

    Matthias R. Baumgartner

  3. Willink Biochemical Genetics Unit Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK

    John Walter

  4. Central Manchester University Hospitals NHS Foundation Trust, St Mary‘s Hospital, Manchester, UK

    John Walter

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Clayton, P.T. (2016). Disorders of Bile Acid Synthesis. In: Saudubray, JM., Baumgartner, M., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49771-5_33

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  • DOI: https://doi.org/10.1007/978-3-662-49771-5_33

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