Disorders of bile acid synthesis

Abstract

Two inborn errors of metabolism affect the modifications of the cholesterol nucleus in both major pathways for bile acid synthesis: 3β-hydroxy-∆5-C27-steroid dehydrogenase (3 β-dehydrogenase) deficiency and ∆4-3-oxosteroid 5β-reductase (5β-reductase) deficiency. These disorders produce cholestatic liver disease and malabsorption of fat and fat-soluble vitamins. Onset of symptoms is usually in the 1st year of life and, if left untreated, the liver disease can progress to cirrhosis and liver failure.