Deficiency of 3β-hydroxy-Δ 5-C 27-steroid dehydrogenase (3β-HSDH), the enzyme that catalyses the second reaction in the principal pathway for the synthesis of bile acids, has been reported to present with prolonged neonatal jaundice ...
Objectives: 3β-Hydroxy-Δ5-C27-steroid dehydrogenase/isomerase deficiency is a bile acid synthesis de ... Inborn errors of bile acid biosynthesis are a rare cause of cholestasis that, if not treated, becomes cirrhosis and end-stage ...