Other Names for this Disease
- B variant GM2 gangliosidosis
- Gangliosidosis GM2 , type 1
- GM2 gangliosidosis, B, B1 variant
- GM2 gangliosidosis, type 1
- HexA deficiency
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.
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