- Beta-hexosaminidase-beta-subunit deficiency
- GM2 gangliosidosis, type 2
- Total hexosaminidase deficiency
- Hexosaminidase A and B deficiency Disease
- Sandhoff-Jatzkewitz-Pilz disease
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Mutations in the HEXB gene disrupt the activity of beta-hexosaminidase A and beta-hexosaminidase B, which prevents these enzymes from breaking down GM2 ganglioside and other molecules. As a result, these compounds can accumulate to toxic levels, particularly in neurons of the brain and spinal cord. A buildup of GM2 ganglioside leads to the progressive destruction of these neurons, which causes many of the signs and symptoms of Sandhoff disease.
- Sandhoff disease. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/sandhoff-disease. Accessed 10/19/2011.