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Disorders of Bile Acid Synthesis

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Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases

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References

  1. Akobeng AK, Clayton PT, Miller V, Super M Thomas AG (1999) An inborn error of bile acid synthesis (3β-hydroxy-δ5-CΔ27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets. Arch Dis Child 80:463–465

    CAS  PubMed  Google Scholar 

  2. Berginer VM, Salen G, Shefer S (1984) Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med 311:1649–1652

    Article  CAS  PubMed  Google Scholar 

  3. Berginer VM, Berginer J, Korczyn AD, Tadmor R (1994) Magnetic resonance imaging in cerebrotendinous xanthomatosis: a prospective clinical and neuroradiological study. J Neurol Sci 122:102–108

    Article  CAS  PubMed  Google Scholar 

  4. Clayton PT (1991) Inborn errors of bile acid metabolism. J Inher Metab Dis 14:478–496

    CAS  PubMed  Google Scholar 

  5. Clayton PT, Leonard JV, Lawson AM, Setchell KDR, Andersson S, Egestad B, Sjövall J (1987) Familial giant cell hepatitis associated with synthesis of zβ,7α-dihydroxy-and zβ,7α,xyα-trihydroxy-5-cholenoic acids. J Clin Invest 79:1031–1038

    CAS  PubMed  Google Scholar 

  6. Clayton PT, Casteels M, Mieli-Vergani G Lawson AM (1995) Familial giant cell hepatitis with lowbile acid concentrationsandincreased urinary excretion of specificbile alcohols. A new inborn error of bile acid synthesis? Pediatr Res 37:424–431

    CAS  PubMed  Google Scholar 

  7. Clayton PT, Mills KA, Johnson AW, Barabino A Marazzi MG (1996) δ4-3-Oxosteroid 5β-reductase deficiency: failure of ursodeoxycholic acid therapy and response to chenodeoxycholic acid plus cholic acid. Gut 38:623–628

    CAS  PubMed  Google Scholar 

  8. Clayton PT, Verrips A, Sistermans E, Mann A, Mieli-Vergani G, Wevers R (2002) Mutations in the cholesterol 27-hydoxylase gene (CYP27) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis. J Inher Metab Dis 25:501–513

    CAS  PubMed  Google Scholar 

  9. Ferdinandusse S, Denis S, Clayton PT, Graham A, Rees JE, Allen JT, McLean BN, Brown AY, Vreken P, Waterham HR, Wanders RJA (2000) Mutations in the gene encoding alphamethyl-CoA racemase cause adult-onset sensory motor neuropathy. Nat Genet 24:188–191

    CAS  PubMed  Google Scholar 

  10. Horslen SP, Lawson AM, Malone M, Clayton PT (1992) 3β-Hydroxy-δ5-CΔ27-steroid dehydrogenase deficiency; effect of chenodeoxycholic acid treament on liver histology. J Inher Metab Dis 15:38–46

    Article  CAS  PubMed  Google Scholar 

  11. Ichimiya H, Nazer H, Gunasekaran T, Clayton P Sjövall J (1990) Chenodeoxycholic acid treatment of chronic liver disease due to 3β-hydroxy-δ5-CΔ27-steroid dehydrogenase deficiency. Arch Dis Child 65:1121–1124

    Article  CAS  PubMed  Google Scholar 

  12. Ichimiya H, Egestad B, Nazer H, Baginski ES, Clayton PT Sjövall J (1991) Bile acids and alcohols in a child with hepatic 3β-hydroxy-δ5-C27-steroid dehydrogenase deficiency; effects of chenodeoxycholic acid treatment. J Lipid Res 32:829–841

    CAS  PubMed  Google Scholar 

  13. Lemonde HA, Custard EJ, Bouquet J, Duran RM, Overmars H, Scambler PJ, Clayton PT (2004) Mutations in SRD5B1, the gene encoding δ4-3-oxosteroid 5β-reductase, in hepatitis and liver failure in infancy. Gut. In press

    Google Scholar 

  14. Lewis B, Mitchell WD, Marenah CB, Cortese C (1983) Cerebrotendinous xanthomatosis: biochemical response to inhibition of cholesterol synthesis. Br Med J 287:21–22

    CAS  Google Scholar 

  15. Mimura Y, Kuriyama M, Tokimura Y, Fujiyama J, Osame M, Takesako K, Tanaka N (1993) Treatment of cerebrotendinous xanthomatosis with low-density lipoprotein (LDL)-apheresis. J Neurol Sci 114:227–230

    Article  CAS  PubMed  Google Scholar 

  16. Pullinger CR, Eng C, Salen G, Shefer S, Batta AK, Erickson SK, Verhagen A, Rivera CR, Mulvihill SJ, Malloy MJ, Kane JP (2002) Human cholesterol 7α-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype. J Clin Invest 110:109–117

    Article  CAS  PubMed  Google Scholar 

  17. Schwarz M, Wright AC, Davis DL, Nazer H, Bjorkhem I, Russell DW (2000) The bile acid synthetic gene 3β-hydroxy-δ5-C27-steroid oxidoreductase ismutated in progressive intrahepatic cholestasis. J Clin Invest 106:1175–84

    CAS  PubMed  Google Scholar 

  18. Setchell KD, Schwarz M, O’Connell NC, Lund EG, Davis DL, Lathe R, Thompson HR, Weslie Tyson R, Sokol RJ, Russell DW (1998) Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7-alpha-hydroxylase gene causes severe neonatal liver disease. J Clin Invest 102:1690–1703

    Article  CAS  PubMed  Google Scholar 

  19. Setchell KD, Heubi JE, Bove KE, O’Connell NC, Brewsaugh T, Steinberg SJ, Moser A, Squires RH Jr (2003) Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy. Gastroenterology 124:217–232

    Article  PubMed  Google Scholar 

  20. Van Veldhoven PP, Meyhi E, Squires RH, Fransen M, Fournier B, Brys V, Bennett MJ, Mannaerts GP (2001) Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoAracemase deficiency: possible link between racemase deficiency and malabsorption and vitamin K deficiency. Eur J Clin Invest 31:714–722

    PubMed  Google Scholar 

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Authors
  1. Peter T. Clayton
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Editor information

Editors and Affiliations

  1. Division of Clinical Chemistry and Biochemistry, University Children’s Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland

    Nenad Blau

  2. Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, 30, Guilford Street, London, WC1N 1EH, UK

    James Leonard

  3. Universitätsklinik für Kinder- und Jugendmedizin, Im Neuenheimer Feld 150, D-69120, Heidelberg, Germany

    Georg F. Hoffmann

  4. Division of Clinical & Metabolic Genetics, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, M5G 1X8, Canada

    Joe T. R. Clarke

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© 2006 Springer-Verlag Berlin Heidelberg

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Clayton, P.T. (2006). Disorders of Bile Acid Synthesis. In: Blau, N., Leonard, J., Hoffmann, G.F., Clarke, J.T.R. (eds) Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-28962-3_34

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  • DOI: https://doi.org/10.1007/3-540-28962-3_34

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-22954-4

  • Online ISBN: 978-3-540-28962-3

  • eBook Packages: MedicineMedicine (R0)

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