Skip to Accessibility Menu Skip to Login Skip to Content Skip to Footer

Congenital bile acid synthesis defect type 1

What is Congenital bile acid synthesis defect type 1?

Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.

Other condition names

  • 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
  • BASD1

Inheritance type

Autosomal recessive

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.