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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
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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.
Last updated: 8/14/2012
- Learning about Tay-Sachs Disease. National Human Genome Research Institute (NHGRI). 2011; http://www.genome.gov/10001220. Accessed 8/14/2012.
- 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 an 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.
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.