Disorders of bile acid synthesis

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

Volumn , Issue , 2006, Pages 341-351

  Clayton, Peter T ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 76149109051     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/3-540-28962-3_34     Document Type: Chapter

References (20)

1. Akobeng AK, Clayton PT, Miller V, Super M Thomas AG (1999) An inborn error of bile acid synthesis (3β-hydroxy-5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets. Arch Dis Child 80:463-465
2. Berginer VM, Salen G, Shefer S (1984) Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med 311:1649-1652
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
4. Clayton PT (1991) Inborn errors of bile acid metabolism. J Inher Metab Dis 14:478-496
5. Clayton PT, Leonard JV, Lawson AM, Setchell KDR, Andersson S, Egestad B, Sjfvall J (1987) Familial giant cell hepatitis associated with synthesis of zβ,7a-dihydroxy-And zβ,7a,xya-trihydroxy-5-cholenoic acids. J Clin Invest 79:1031-1038
6. Clayton PT, Casteels M, Mieli-Vergani G Lawson AM (1995) Familial giant cell hepatitis with lowbile acid concentrationsandincreased urinary excretionof specificbile alcohols. A new inborn error of bile acid synthesis? Pediatr Res 37:424-431
7. Clayton PT, Mills KA, Johnson AW, Barabino A Marazzi MG (1996) ?4-3-Oxosteroid 5β-reductase deficiency: failure of ursodeoxycholic acid therapy and response to chenodeoxycholic acid plus cholic acid. Gut 38:623-628
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
9. Ferdinandusse S, Denis S,ClaytonPT,GrahamA,Rees JE, Allen JT,McLeanBN,BrownAY, 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
10. Horslen SP, Lawson AM, Malone M, Clayton PT (1992) 3β-Hydroxy-5-C27- steroid dehydrogenase deficiency; effect of chenodeoxycholic acid treament on liver histology. J Inher Metab Dis 15:38-46
11. Ichimiya H, Nazer H, Gunasekaran T, Clayton P Sjfvall J (1990) Chenodeoxycholic acid treatment of chronic liver disease due to 3β-hydroxy-5-C27-steroid dehydrogenase deficiency. Arch Dis Child 65:1121-1124
12. Ichimiya H, Egestad B, Nazer H, Baginski ES, Clayton PT Sjfvall J (1991) Bile acids and alcohols in a child with hepatic 3β-hydroxy-5-C27-steroid dehydrogenase deficiency; effects of chenodeoxycholic acid treatment. J Lipid Res 32:829-841
13. Lemonde HA, Custard EJ, Bouquet J, Duran RM, Overmars H, Scambler PJ, Clayton PT (2004) Mutations in SRD5B1, the gene encoding ?4-3-oxosteroid 5β-reductase, in hepatitis and liver failure in infancy. Gut. In press
14. Lewis B,MitchellWD,Marenah CB, Cortese C (1983) Cerebrotendinous xanthomatosis: biochemical response to inhibition of cholesterol synthesis. Br Med J 287:21-22
15. Mimura Y, Kuriyama M, Tokimura Y, Fujiyama J, Osame M, Takesako K, TanakaN(1993) Treatment of cerebrotendinous xanthomatosis with low-density lipoprotein (LDL)-Apheresis. J Neurol Sci 114:227-230
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 7a-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype. J Clin Invest 110:109-117
17. Schwarz M, Wright AC, Davis DL, Nazer H, Bjorkhem I, Russell DW (2000) The bile acid synthetic gene 3β-hydroxy-5-C27-steroid oxidoreductase ismutated in progressive intrahepatic cholestasis. J Clin Invest 106:1175-84
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
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
20. VanVeldhoven PP,Meyhi E, Squires RH, Fransen M, FournierB,BrysV, BennettMJ,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