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Review Article

Inborn Errors of Metabolism with Consequences for Bile Acid Biosynthesis: A Minireview

Pages 68-72 | Published online: 08 Jul 2009

References

  • Björkhem I. Mechanism of bile acid biosynthesis in mammalian liver. Sterol and bile acids, H Danielsson, J Sjövall. Elsevier, BV Amsterdam 1985; 231–78
  • Björkhem I. Mechanism of degradation of the steroid side chain in the formation of bile acids. J Lipid Res 1992; 33: 455–72
  • Tint G S, Irons M, Elias E R, Batta A K, Frieden R, Chen T, et al. Defective cholesterol synthesis associated with the Smith-Lemli-Opitz syndrome. New Engl J Med 1994; 330: 107–13
  • Iron M, Elias E R, Salen G, Tint G S, Batta A K. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. The Lancet 1993; 341: 1414
  • Clayton P T, Lawson A M, Setchell K DR, Andersson S, Egestad B, Sjövall J. Familial giant cell hepatitis associated with synthesis of 3β,7α,12α-trihydroxy-5-cholenoic acid. J Clin Invest 1987; 79: 1031–8
  • Clayton P T, Lawson A M, Setchell K DR, Andersson S, Egestad B, Sjövall J. A new inborn error of bile acid biosynthesis. Bile acids and the liver, G Paumgartner, A Stiehl, W Gerok. MTP Press, LancasterUK 1987; 259
  • Skrede J I, Björkhem I, Kvittingen E A, Buchmann M S, Lie O, East C, et al. Demonstration of 26-hydroxylation of C27-steroids in human skin fibroblasts and deficiency of this activity in CTX. J Clin Invest 1986; 78: 729–35
  • Buchmann M S, Kvittingen E A, Nazer H, Gunasekaran T, Clayton P T, Sjövall J, et al. Lack of 3β-hydroxy-δ5-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3β-hydroxy-δ5-bile acids—a new inborn error of metabolism. J Clin Invest 1990; 86: 2034–8
  • Setchell KD. Disorders of bile acid biosynthesis. Pediatric gastrointestinal disease: pathophysiology, diagnosis, management, W A Walker, P R Durie, J R Hamilton, J A Walker-Smith, J B Watkins. B. C. Decker, Toronto/Philadelphia 1990; 992–1013
  • Ichimiya H, Egestad B, Nazer H, Baginski E S, Clayton P, Sjövall J. Bile acids and bile alcohols in a child with hepatic 3β-hydroxy-δ5-C2-steroid dehydrogenase deficiency: effects of chenodeoxycholic acid treatment. J Lipid Res 1991; 32: 829–35
  • Setchell K DR, Suchy F J, Welsh M B, Zimmer-Nechemias L, Heubi J, Balistreri W F. δ4-3-Oxosteroid 5β-reductase deficiency described in identical twins with neonatal hepatitis—a new inborn error in bile acid biosynthesis. J Clin Invest 1988; 88: 2135–46
  • Huon P T, Patel E, Lawson A M, Carruthers R A, Tanner M S, Strandvik B, et al. 3-Oxo-δ4-bile acids in liver disease. Lancet 1988; 4: 1283
  • Kondo K, Kai M, Setoguchi Y, Eggertsen G, Sjöblom P, Setoguchi T, et al. Cloning and expression of cDNA of human δ4-3-oxosteroid 5β-reductase and substrate specificity of the expressed enzyme. Eur J Biochem 1994; 219: 357–62
  • Björkhem I, Skrede S. CTX and phytosterolemia. Chapter 51. The metabolic basis of inherited disease, CR Scriver, AL Beaudet, WS Sly, D Valle. McGraw-Hill, New York 1989; 1283–302
  • Oftebro H, Björkhem I, Skrede S, Schreiner A, Pedersen J I. CTX. A defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid. J Clin Invest 1980; 65: 1418–30
  • Cali J J, Hsieh C-L, Francke U, Russel D W. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie CTX. J Biol Chem 1991; 266: 7779–83
  • Leitcrsdorf E, Reshef A, Meiner V, Levitzki R, Schwartz S P, Dann E J, et al. Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause CTX in jews of moroccan origin. J Clin Invest 1993; 91: 2488–96
  • Kim K S, Kubota S, Kuriyama M, Fujiyama J, Björkhem I, Eggertsen G, et al. Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with CTX. J Lipid Res 1994; 35: 1031–9
  • Skrede S, Björkhem I, Buchmann M S, Hopen G, Fausa O. A novel pathway for biosynthesis of cholestanol with 7α-hydroxylated C-27 steroids as intermediates, and its importance for the accumulation of cholestanol in CTX. J Clin Invest 1985; 75: 448–55
  • Skrede S, Buchmann M S, Björkhem I. Hepatic dehydroxylation of bile acid intermediates and its significance for the pathogenesis of CTX. J Lipid Res 1988; 29: 157–64
  • Lazarow P B, Moser H. Disorders of peroxisome genesis. Chapter 57. The metabolic basis of inherited disease, CR Scriver, AL Beaudet, WS Sly, D Valee. McGraw-Hill, New York 1989; 1479–509
  • Kase B F, Björkhem I, Hågå P, Pedersen J I. Defective peroxisomal cleavage of the C-27 steroid side-chain in cerebrohepatorenal syndrome of Zellweger. J Clin Invest 1985; 75: 427–35
  • Kase B F, Pedersen J I, Strandvik B, Björkhem I. In vivo and in vitro studies on formation of bile acids in patients with the Zellweger syndrome. Evidence that peroxisomes are of importance in the normal biosynthesis of both cholic acid and chenodeoxycholic acid. J Clin Invest 1985; 76: 2393–402

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