bile acid synthesis defect—congenital—1
Definition A condition (OMIM:607765) characterised by a primary defect in bile synthesis leading to progressive liver disease.
Clinical features Neonatal jaundice, severe intrahepatic cholestasis, cirrhosis.
Molecular pathology Defects of HSD3B7, which encodes a membrane-associated endoplasmic reticulum enzyme involved in the synthesis of bile acids from cholesterol, cause bile acid synthesis defect—congenital—1.
Synonym 3-beta-hydroxy-delta-5-C27 steroid oxidoreductase deficiency