5C52.11
category
Bile acid synthesis defect with cholestasis
Definition
Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Eight inborn errors have been clearly identified, 7 of which lead to liver cholestasis and include: 3β-hydroxy-C27-steroid oxidoreductase deficiency (type 1), Δ4-3-oxosteroid 5β-reductase deficiency (type 2), oxysterol 7α-hydroxylase deficiency (type 3), 2-methylacyl-CoA racemase deficiency (type 4), bile acid CoA ligase deficiency, and cerebrotendinous xanthomatosis. Cholesterol 7α-hydroxylase deficiency leads to hypercholesterolaemia without liver cholestasis.
Also indexed as
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency3-beta-hydroxysterol delta5-oxidoreductase/isomerase deficiencyAMACR deficiencyAlpha-methyl-acyl-CoA racemase deficiencyAnomaly of bile acid synthesisBile acid synthesis defect with cholestasisCTX - [Cerebrotendinous xanthomatosis]Cerebrotendinous xanthomatosisCholestanol storage diseaseCongenital bile acid synthesis defect type 1Congenital bile acid synthesis defect type 2Congenital bile acid synthesis defect type 3Congenital bile acid synthesis defect type 4Delta(4)-3-oxysterol 5-beta-reductase deficiencyLiver disease - retinitis pigmentosa - polyneuropathy - epilepsyOxysterol 7-alpha-hydroxylase deficiencyProgressive familial intrahepatic cholestasis type 4Sterol 27-hydroxylase deficiencyVan Bogaert-Scherer-Epstein disease