Congenital bile acid synthesis defect type 2
ORPHA:79303· ICD-10 K76.8
Definition
Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal