GM1 gangliosidosis
ORPHA:354· ICD-10 E75.1
Definition
GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood