Хвороба Тея-Сакса
ORPHA:845· ICD-10 E75.0· Tay-Sachs disease
Визначення(English summary)
A rare autosomal recessive lysosomal disease characterized by accumulation of GM2 gangliosides in the nervous system due to hexosaminidase A deficiency as a consequence of biallelic pathogenic variants in the HEXA gene.
- Поширеність
- 1-9 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- All ages