Congenital bile acid synthesis defect

Cerebrotendinous xanthomatosis [DS:H00151]
Zellweger syndrome [DS:H01342]

Congenital bile acid synthesis defects (CBAS) involve congenital deficiencies in enzymes responsible for catalyzing key reactions in bile acid synthesis. CBAS type 1, 2 ,3 and 4 are due to mutations in HSD3B7, AKR1D1, CYP7B1, and AMACR, respectively. Inherited mutations that impair bile acid synthesis cause a spectrum of human disease ranging from liver failure in early childhood to progressive neuropathy in adults.

Congenital disorder of metabolism

nt06022  Bile acid biosynthesis

(CBAS1) HSD3B7 [HSA:80270] [KO:K12408]
(CBAS2) AKR1D1 [HSA:6718] [KO:K00251]
(CBAS3) CYP7B1 [HSA:9420] [KO:K07430]
(CBAS4) AMACR [HSA:23600] [KO:K01796]
(CBAS5) ABCD3 [HSA:5825] [KO:K05677]
(CBAS6) ACOX2 [HSA:8309] [KO:K10214]

Cerebrotendinous xanthomatosis [DS:H00151] and Zellweger syndrome [DS:H00205] are also involved disorders in bile acid synthesis.

PMID:18577977

Sundaram SS, Bove KE, Lovell MA, Sokol RJ

Mechanisms of disease: Inborn errors of bile acid synthesis.

Nat Clin Pract Gastroenterol Hepatol 5:456-68 (2008)
DOI:10.1038/ncpgasthep1179

PMID:15937079

van Mil SW, Houwen RH, Klomp LW

Genetics of familial intrahepatic cholestasis syndromes.

J Med Genet 42:449-63 (2005)
DOI:10.1136/jmg.2004.026187

PMID:25168382

Ferdinandusse S, Jimenez-Sanchez G, Koster J, Denis S, Van Roermund CW, Silva-Zolezzi I, Moser AB, Visser WF, Gulluoglu M, Durmaz O, Demirkol M, Waterham HR, Gokcay G, Wanders RJ, Valle D

A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3.

Hum Mol Genet 24:361-70 (2015)
DOI:10.1093/hmg/ddu448

PMID:27884763

Monte MJ, Alonso-Pena M, Briz O, Herraez E, Berasain C, Argemi J, Prieto J, Marin JJG

ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia.

J Hepatol 66:581-588 (2017)
DOI:10.1016/j.jhep.2016.11.005