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Genetic and Rare Diseases Information Center (GARD)

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Tay-Sachs disease


Other Names for this Disease

  • B variant GM2 gangliosidosis
  • Gangliosidosis GM2 , type 1
  • GM2 gangliosidosis, type 1
  • HexA deficiency
  • Hexosaminidase A 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.

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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2 question(s) from the public on Tay-Sachs disease have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
  • Genetics Home Reference (GHR) contains information on Tay-Sachs disease. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The 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. 
  • 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.

Insurance Issues

Other Names for this Disease
  • B variant GM2 gangliosidosis
  • Gangliosidosis GM2 , type 1
  • GM2 gangliosidosis, type 1
  • HexA deficiency
  • Hexosaminidase A 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.