a. Tay-Sachs disease is when harmful quantities of a fatty substance called ganglioside GM2 builds up in tissues and nerve cells.
b. It was named after Warren Tay who found the red retina, and Bernard Sachs who found how it changes the cells.
c. Some symptoms are seizures, behavior change, increased startle reaction, blindness, deafness, and slow body growth.
d. The cause for Tay-Sachs disease is a mutation in the HEXA gene, which is on chromosome 15.
e. The diagnosis of the disease is by a blood test or a enzyme test.
f. Unfortunately, there is no cure, only comfitors.
g. There is no way to prevent it.
h. There are clinical trials using substrate reduction to find cures.
nervous-system.emedtv.com
mayoclinic.org
ncbi.nlm.nih.gov
What substance builds up when the enzyme fails?
What senses does Tay-Sachs disease affect?
How can it be cured?
