Bile acid synthesis defects, congenital, 1: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (3-beta-hydroxy-delta-5-C27-steroid oxidoreductase) needed to make bile acid. More detailed information about the symptoms, causes, and treatments of Bile acid synthesis defects, congenital, 1 is available below.
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