GM2 gangliosidoses
The GM2 gangliosidoses are a small group of three closely-related rare genetic conditions, all due to a deficiency of beta-hexosaminidase, an enzyme vital for the metabolism of GM2 gangliosides in lysosomes, especially important in the brain. The GM2 gangliosidoses form a subgroup of the lysosomal storage diseases.
- Tay-Sachs disease
- Sandhoff disease
- AB variant