Congenital bile acid synthesis defect type 2

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Synonyms: BASD2 | Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency

Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease and malabsorption of fat and fat-soluble vitamins.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Congenital bile acid synthesis defect type 2?

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Clinical Trials

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