Вроджений дефект синтезу жовчних кислот, тип 2
ORPHA:79303· ICD-10 K76.8· Congenital bile acid synthesis defect type 2
Визначення(English summary)
Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal