Congenital bile acid synthesis defect type 3
What is Congenital bile acid synthesis defect type 3?
Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease.
Other condition names
- BASD3
- Oxysterol 7-alpha-hydroxylase deficiency
Inheritance type
Autosomal recessive
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Infancy
- Neonatal
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