Congenital bile acid synthesis defect type 3
ORPHA:79302· ICD-10 K76.8
Definition
Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal