Catalog

Congenital bile acid synthesis defect type 1

No MMS code

Link to WHO Definition

Congenital bile acid synthesis defect type 1 – http://id.who.int/icd/entity/352753987

Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterised by variable manifestations of progressive cholestatic liver disease, and fat malabsorption, most patients having features of neonatal cholestasis.