Bile Acid Synthesis and Metabolism Disorders

Bile acid synthesis disorders are rare autosomal recessive conditions caused by defects in enzymes that convert cholesterol into primary bile acids or by impaired peroxisomal function, like Zellweger Spectrum Disorders. These defects result in reduced or absent primary bile acids and accumulation of toxic intermediary metabolites, which can cause cholestatic liver injury. The diagnosis should be considered in patients with conjugated hyperbilirubinemia and normal serum bile acids. Although these are rare disorders, their overlapping clinical presentation from neonatal period through adulthood creates diagnostic challenges. Cholic acid therapy is effective in majority of these patients.