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.

Symptoms

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

Request an Appointment

Find a Doctor
Find a Doctor