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

Treatment

Bile acid synthesis defect is treated in the Pediatric Liver Center at Hopkins Children's.