Sandhoff disease is a rare genetic disorder of lysosomal storage, similar to Tay Sachs Disease. The disease is characterized by progressive deterioration of the central nervous system.
Sandhoff disease is caused due to mutations in the Hexosaminidase B (HEXB) gene. The HEXB gene codes for the beta chain of both Hexosaminidase A and Hexosaminidase B proteins. These proteins are responsible for the degradation of GM2 gangliosides in the brain and other tissues. Mutations in the gene prevent the breakdown of these GM2 gamgliosides, resulting in their build-up in the CNS.