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.

Symptoms

• Progressive liver disease
• Cholestasis
• Jaundice
• Liver fibrosis
• Abnormal bile acid precursors in urine