Tay-Sachs is an inherited genetic disease in which the body does not break
down fatty compounds, called gangliosides, as it should. As the gangliosides
build up in the brain, they damage the nerve cells, and then
these cells cannot function properly.
The gangliosides that build up and cause problems in Tay-Sachs disease are normally broken down by an enzyme called hex A (hexosaminidase A). There are two forms of Tay-Sachs disease, based on whether any hex A is produced or not:
Treatment for Tay-Sachs disease focuses on controlling symptoms and
preparing for the course of the disease. There is no cure. Additional personal
and family support measures (such as home care or respite care) may be needed
as the disease progresses.
June 20, 2013
Sarah Marshall, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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