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Home > A. Molecular pathology > anomalies of the modification of the sterol nucleus of bile (...)

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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