Inborn errors of bile acid biosynthesis and transport. Novel forms of metabolic liver disease.

Defective bile acid biosynthesis, metabolism, and transport can now be delineated in a wide variety of disease states. This ability to recognize specific aberrations, such as the documented inborn errors in bile acid biosynthesis manifesting as neonatal cholestasis, offers new opportunities for therapeutic intervention. Future studies should determine the incidence of bile acid biosynthetic and transport defects in patients with enigmatic and unexplained liver diseases.