Disorders of Bile Acid Synthesis

  • P. T. Clayton


Two defined inborn errors of metabolism affect the modifications of the cholesterol nucleus in the major pathway for bile acid synthesis: 3β-hydroxy-Δ5-C27-steroid-dehydrogenase (3β-dehydrogenase) deficiency and Δ4-3-oxo-steroid-5β-reductase (5β-reductase) deficiency. These disorders produce chronic cholestatic liver disease and malabsorption of fat and fat-soluble vitamins. Onset of symptoms is usually in the first year of life and, untreated, the liver disease can progress to cirrhosis. Treatment with chenodeoxycholic acid and cholic acid leads to dramatic improvement in the liver disease and the malabsorption.


Bile Acid Cholic Acid Chenodeoxycholic Acid Bile Acid Synthesis Cholestatic Liver Disease 
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© Springer-Verlag Berlin Heidelberg 2000

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  • P. T. Clayton

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