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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Questions Answered


2 question(s) from the public on this disease have been answered. Submit a new question.
  • I may be a carrier for Sandhoff disease. I am pregnant, non-Jewish and my hexosaminidase A is slightly elevated. The test was not definitive. I am negative for Tay Sachs. My husband is NOT a carrier for Sandhoff and due to this I have been discouraged from getting further testing. Both of my parents asked for Sandhoff testing but were given Tay Sachs tests and both were negative. I am concerned for my extended family. They should know if we have a genetic disorder but I do not want to alarm anyone needlessly. Is there any advice that can be given? All of your help is greatly appreciated. Click here for answer

  • Is there a cure for Sandhoff disease? Are there effective treatments for this condition? What is the prognosis for an affected individual? Click here for answer

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.