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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Sandhoff disease


Other Names for this Disease

  • Beta-hexosaminidase-beta-subunit deficiency
  • GM2 gangliosidosis, type 2
  • Hexosaminidase A and B deficiency Disease
  • Sandhoff-Jatzkewitz-Pilz disease
  • Total hexosaminidase deficiency
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Cause

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What causes Sandhoff disease?

Sandhoff disease is caused by mutations in the HEXB gene. The HEXB gene provides instructions for making a protein that is part of two critical enzymes in the nervous system, beta-hexosaminidase A and beta-hexosaminidase B. These enzymes are located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, these enzymes break down fatty substances, complex sugars, and molecules that are linked to sugars. In particular, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside.[1]

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.[1]

Last updated: 2/2/2011

References
  1. Sandhoff disease. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/sandhoff-disease. Accessed 10/19/2011.


Other Names for this Disease
  • Beta-hexosaminidase-beta-subunit deficiency
  • GM2 gangliosidosis, type 2
  • Hexosaminidase A and B deficiency Disease
  • Sandhoff-Jatzkewitz-Pilz disease
  • Total hexosaminidase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.