ORPHA:79301
Congenital bile acid synthesis defect type 1
Also called 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency, BASD1
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:79301 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Jaundice
- Biliary tract abnormality
- Failure to thrive
- Malabsorption
- Hepatomegaly
- Elevated circulating hepatic transaminase concentration