Bile acid synthetic defect （BASD） is a rare category of genetic disorders that are responsible for approximately 2% of persistent cholestasis in infants. Until date, four enzynles responsible for congenital defects ...Bile acid synthetic defect （BASD） is a rare category of genetic disorders that are responsible for approximately 2% of persistent cholestasis in infants. Until date, four enzynles responsible for congenital defects of bile acid synthesis （CBAS） have been identified. 313-hydroxy-A5-C27-steroid dehydrogenase （3β-HSD）, the deficiency of which can cause CBAS 1 （OMIM No. 607765）, is encoded by the gene HSD3B7 and works in the second step of transforming the steroid into primary bile acids.展开更多
文摘Bile acid synthetic defect （BASD） is a rare category of genetic disorders that are responsible for approximately 2% of persistent cholestasis in infants. Until date, four enzynles responsible for congenital defects of bile acid synthesis （CBAS） have been identified. 313-hydroxy-A5-C27-steroid dehydrogenase （3β-HSD）, the deficiency of which can cause CBAS 1 （OMIM No. 607765）, is encoded by the gene HSD3B7 and works in the second step of transforming the steroid into primary bile acids.
