ORPHA:79303
Congenital bile acid synthesis defect type 2
Also called BASD2, Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:79303 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Hyperbilirubinemia
- Abnormal enzyme/coenzyme activity
- Giant cell hepatitis
- Jaundice
- Cholestasis
- Hepatic steatosis