Bile acid synthesis defect, congenital, 2: 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 (cholestasis with delta(4)-3-oxosteroid 5-beta-reductase) needed to make bile acid. More detailed information about the symptoms, causes, and treatments of Bile acid synthesis defect, congenital, 2 is available below.
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