Table Info

Table 2.

Inborn defects in BA synthesis: side chain shortening and conjugation

Gene	Protein	Clinical features	Treatment	Ref.	Animal models
CYP27A1	CYP27A1	Children: neonatal cholestasis, diarrhea, cataracts, growth retardation Adults: xanthomas, neuropsychiatric symptoms (ataxia, dementia)	CDCA	[48, 54]	[50–53]
PEX	Several peroxisomal proteins	Liver dysfunction, neurological abnormalities, hearing and vision impairment, adrenocortical dysfunction	Symptomatic or supportive therapies	[56, 57]	[58–60]
ABCD3	PMP70	Hepatic dysfunction, hepatosplenomegaly	N.D.	[61]	[61, 87]
AMACR	AMACR	Children: malabsorption of fat-soluble vitamins, coagulation disorders, cholestasis, hepatitis Adults: sensory and motor degenerative neuropathy	CA	[63–66]	[67]
ACOX2	ACOX2	Hypertransaminasemia and severe hepatic and neurological alterations	Cholestyramine UDCA	[69–72]	[73, 74]
HSD17B4	DBP	Hypotonia, delayed growth and psychomotor development, visual and auditory defects. Hepatomegaly, fibrosis	N.D.	[75]	[76, 77]
SCP2	SCPx	Fertility abnormalities. Brain lesions with motor disorders	Phytanic acid-restricted diet	[78, 79]	[80]
SLC27A5	BACS	No signs of liver disease	N.D.	[81]	[82, 83]
BAAT	BAAT	Neonatal cholestasis. Malabsorption of fat-soluble vitamins. Rickets	GCA	[84, 86]	[85]

ABCD3: ATP-binding cassette subfamily D member 3; ACOX2: acyl-coenzyme A (CoA) oxidase 2; AMACR: α-methyl acyl-CoA racemase; BA: bile acid; BAAT: BA CoA: amino acid N-acyl transferase; BACS: BA-CoA synthetase; CYP27A1: sterol 27-hydroxylase; DBP: D-bifunctional protein; PEX: peroxisomal biogenesis factor or peroxin; PMP70: peroxisomal membrane protein 70; SCP2: sterol carrier protein 2

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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