Disorder of bile acid synthesis
ORPHA:79168
Definition
A group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.
- Prevalence
- 1-9 / 1 000 000
- Age of onset
- All ages