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Diseases

Genetic and Rare Diseases Information Center (GARD)

Tay-Sachs disease


Other Names for this Disease
  • B variant GM2 gangliosidosis
  • Gangliosidosis GM2 , type 1
  • GM2 gangliosidosis, B, B1 variant
  • GM2 gangliosidosis, type 1
  • HexA deficiency
Related Diseases
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Overview

Gangliosidosis (GM2) type 1, also known as Tay-Sachs disease, is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A). Without Hex-A, a fatty substance, or lipid, called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to the cells.[1]
Last updated: 8/14/2012

References

  1. Learning about Tay-Sachs Disease. National Human Genome Research Institute (NHGRI). 2011; http://www.genome.gov/10001220. Accessed 8/14/2012.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Tay-Sachs disease. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • B variant GM2 gangliosidosis
  • Gangliosidosis GM2 , type 1
  • GM2 gangliosidosis, B, B1 variant
  • GM2 gangliosidosis, type 1
  • HexA deficiency
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.