Inborn Errors of Bile Acid Synthesis

  • P. T. Clayton


The conversion of cholesterol to bile acids in the liver requires modifications to the sterol nucleus and oxidation of the side chain, as shown in Fig. 1 [1, 2]. Two defects in the nuclear modification reactions have been described:
  • 3β-Hydroxy-△5-C27-steroid dehydrogenase (3β-dehydrogenase) deficiency

  • 3-Oxo-△4-steroid 5β-reductase (5β-reductase) deficiency


Bile Acid Cholic Acid Chenodeoxycholic Acid Bile Acid Synthesis Autosomal Recessive Trait 
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© Springer-Verlag Berlin Heidelberg 1995

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  • P. T. Clayton

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