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

Defective bile acid biosynthesis, metabolism, and transport can now be deli neated in a wide variety of disease states. This ability to recognize speci fic aberrations, such as the documented inborn errors in bile acid biosynth esis manifesting as neonatal cholestasis, offers new opportunities for ther apeutic intervention. Future studies should determine the incidence of bile acid biosynthetic and transport defects in patients with enigmatic and une xplained liver diseases.