KOLBAM

Cholic acid is the predominant primary bile acid in man. In patients with inborn deficiency of 3β-Hydroxy-Δ⁵−C₂₇-steroid oxidoreductase and Δ⁴-3-Oxosteroid-5β-reductase, the biosynthesis of primary bile acids is reduced or absent. The rational basis for treatment consists of restoration of the bile aciddependent component of bile flow enabling restoration of biliary secretion and biliary elimination of toxic metabolites; inhibition of the production of the toxic bile acid metabolites by negative feedback on cholesterol 7α-hydroxylase, which is the rate-limiting enzyme in bile acid synthesis; and improvement of the patient’s nutritional status by correcting intestinal malabsorption of fats and fat-soluble vitamins.