Research Notes on Tay-Sachs Disease Genetics
Tay-Sachs disease is an inherited central nervous disorder that appears in three variations: Classic Infantile, Juvenile, and Late Onset Tay-Sachs. It is caused by the absence of an important enzyme called hexosaminidase A (hex A). Hex A is essential for the breakdown of the fatty substance GM2 ganglioside. Without Hex A, GM2 accumulates, resulting in progressive neural damage in the brain.
Top Resources on Tay-Sachs Disease Genetics
- Cure Tay-Sachs Foundation: Gene Therapy
- Genetics Home Reference: Tay-Sachs Disease
- National Tay-Sachs & Allied Diseases: What Is Tay-Sachs Disease?
- Lucille Packard Children's Hospital: Medical Genetics Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay Sachs Disease
- Mazor Guide: Tay-Sachs Disease
- GeneReviews: Hexosaminidase A Deficiency
- Society for Neuroscience (SFN): Treating Tay-Sachs Disease
- National Human Genome Research Institute: Learning About Tay-Sachs Disease
- Mount Sinai Medical Center: Diseases: Tay-Sachs Disease
- Answers.com: Tay-Sachs Disease
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About this WisdomCard
- Contributor: Martin Dela Cruz, RMT
- Reviewer: Elisa Carter
- Supervised by: The OrganizedWisdom Physician Review Team
- Last update: Jul. 31, 2008
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