Variable Clinical Spectrum of Inborn Errors of Bile Acid Synthesis: A Report of 10 Cases.

Inborn errors of bile acid synthesis can cause a variety of liver diseases, from asymptomatic liver enzyme elevation to cirrhosis. Clinical findings may include neurological symptoms and fat and fat-soluble vitamin malabsorption complications. Deficiency of 3β-hydroxy-Δ5-C27-steroid dehydrogenase is the most common bile acid synthetic defect presenting in cholestasis in infancy and childhood. Cholic acid is effective for most patients with inborn errors of bile acid synthesis. If patients do not receive an early diagnosis, progressive liver disease or other serious complications may develop.