Table Info

Table 1.

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]	[25–28]
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

Declarations

Author contributions

REE, EH, ASM and PSS played a main role in collecting information; JJGM coordinated the study; MJM wrote the first draft.

Conflicts of interest

The authors declare that they have no conflicts of interest.

Ethical approval

Not applicable.

Consent to participate

Not applicable.

Consent to publication

Not applicable.

Availability of data and materials

Not applicable.

Funding

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.

Copyright

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