Inborn defects in BA synthesis: sterol nucleus modifications

Gene Protein Clinical features Treatment Ref. Animal models
CYP7A1 CYP7A1 No signs of liver damage, hypercholesterolemia, hypertriglyceridemia, gallstone disease N.D. [24] [2528]
HSD3B7 HSD3B7 Neonatal cholestasis, cirrhosis, malabsorption of fats and fat-soluble vitamins CA, CDCA [32, 33, 36] [35]
AKR1D1 (SR5B1) AKR1D1 Neonatal hepatitis, cirrhosis, liver failure CA, CDCA [37, 40] [38]
CYP7B1 CYP7B1 Severe neonatal liver disease, cholestasis, fibrosis, cirrhosis CDCA, Liver transplantation [43, 46, 47] [44]

AKR1D1: Δ4-3-oxosteroid-5β-reductase; BA: bile acid; CYP7A1: cholesterol 7α-hydroxylase; CYP7B1: oxysterol 7α-hydroxylase; HSD3B7: 3β-hydroxy-Δ5-C27-steroid-oxidoreductase; N.D.: not defined