Вроджений дефект синтезу жовчних кислот, тип 1
ORPHA:79301· ICD-10 K76.8· Congenital bile acid synthesis defect type 1
Визначення(English summary)
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.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal