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GM2 gangliosidosis

Saturday 28 January 2006


GM2 gangliosidoses are a group of three lysosomal storage diseases caused by an inability to catabolize GM2 gangliosides. Degradation of GM2 gangliosides requires three polypeptides encoded by three separate loci. The phenotypic effects of mutations affecting these genes are fairly similar because they result from accumulation of GM2 gangliosides. The underlying enzyme defect, however, is different for each.

Tay-Sachs disease, the most common form of GM2 gangliosidosis, results from mutations that affect the α-subunit locus on chromosome and cause a severe deficiency of hexosaminidase A (HEXA) (MIM.606869). Another form of the diseases has been mapped to 5q31.3-q33.1 (MIM.272750).


- Tay-Sachs diseases (GM2-gangliosidosis type 1)
- Sandhoff disease (GM2-gangliosidosis type 2)
- juvenile type GM2-gangliosidosis (GM2-gangliosidosis type 3) (MIM.230700)
- GM2-gangliosidosis, A(M)B varaiant (MIM.230710)

See also

- gangliosidoses

  • GM1 gangliosidosis