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congenital bile acid synthesis defect

ORPHA: 485631

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Classification & Codes

Overview

steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

Orphanet Code

ORPHA:485631
congenital bile acid synthesis defect
OrphanetORPHA:485631
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO