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.||||[25–28]|
|HSD3B7||HSD3B7||Neonatal cholestasis, cirrhosis, malabsorption of fats and fat-soluble vitamins||CA, CDCA||[32, 33, 36]|||
|AKR1D1 (SR5B1)||AKR1D1||Neonatal hepatitis, cirrhosis, liver failure||CA, CDCA||[37, 40]|||
|CYP7B1||CYP7B1||Severe neonatal liver disease, cholestasis, fibrosis, cirrhosis||CDCA, Liver transplantation||[43, 46, 47]|||
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
REE, EH, ASM and PSS played a main role in collecting information; JJGM coordinated the study; MJM wrote the first draft.
The authors declare that they have no conflicts of interest.
This study was funded by the CIBERehd (EHD15PI05/2016) and “Fondo de Investigaciones Sanitarias, Instituto de Salud Carlos III”, Spain (PI19/00819 and PI20/00189, co-funded by European Regional Development Fund/European Social Fund, “Investing in your future”); “Junta de Castilla y Leon” (SA074P20); Fundació Marato TV3 (Ref. 201916-31), Spain; AECC Scientific Foundation (2017/2020), Spain; “Centro Internacional sobre el Envejecimiento” (OLD-HEPAMARKER, 0348_CIE_6_E), Spain. REE was supported by a predoctoral contract funded by “Junta de Castilla y Leon” and “Fondo Social Europeo” (EDU/574/2018). ASM and PSS are supported by a predoctoral scholarship (FPU) funded by the Ministry of Science, Innovation and Universities, Spain. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
© The Author(s) 2022.