anomalies of the modification of the sterol nucleus of bile acids
At least four inborn errors affecting enzymes that modify the sterol rings have been identified. Three of them are associated with progressive liver disease.
defect in cholesterol 7α-hydroxylase
defect in oxysterol 7α-hydroxylase
defect in 3β-hydroxy-C27-steroid dehydrogenase/isomerase
References
Bile acids: chemistry, physiology, and pathophysiology. Monte MJ, Marin JJ, Antelo A, Vazquez-Tato J. World J Gastroenterol. 2009 Feb 21;15(7):804-16. PMID: #19230041#