Health

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
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