Catalog

Congenital bile acid synthesis defect type 3

No MMS code

Link to WHO Definition

Congenital bile acid synthesis defect type 3 – http://id.who.int/icd/entity/2022512995

Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterised by severe neonatal cholestatic liver disease. It presents with severe progressive cholestasis, hepatosplenomegaly, coagulopathy, cirrhosis and liver synthetic failure from early infancy.