Bile Acid Synthesis Defect
What is bile acid synthesis defect?
Bile acid synthesis defect 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.
- Progressive liver disease
- Liver fibrosis
- Abnormal bile acid precursors in urine