Novel Mutations in the 3β-hydroxy-Δ5-C27-steroid Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal Cholestasis

Abstract

Bile acid synthetic defect (BASD) is a rare category of genetic disorders that are responsible for approximately 2% of persistent cholestasis in infants.[1] Until date, four enzymes responsible for congenital defects of bile acid synthesis (CBAS) have been identified. 3β-hydroxy-∆5-C27-steroid dehydrogenase (3β-HSD), the deficiency of which can cause CBAS1 (OMIM No. 607765), is encoded by the gene HSD3B7 and works in the second step of transforming the steroid into primary bile acids.