How to Treat Tay Sachs Disease?

What is Tay-Sachs Disease?

Tay-Sachs disease, a rare genetic disorder primarily affecting the nervous system, arises from the deficiency of hexosaminidase A (Hex-A) enzyme. This deficiency causes the accumulation of GM2 ganglioside, a fatty substance, in the brain's nerve cells. This progressive accumulation leads to severe neurological problems. In infants with Tay-Sachs, the lack of hexosaminidase A, a vital protein for cellular chemical reactions, results in the buildup of a fatty substance in the nerve cells of the brain and spinal cord.

Why Does Tay-Sachs Disease Occur?

Tay-Sachs disease is an autosomal recessive genetic disorder, meaning that both parents must carry a defective gene for the condition to manifest in their child. The faulty gene responsible for Tay-Sachs is located on chromosome 15, and when both parents carry a copy of the defective gene, there is a 25% chance that each of their children will inherit the disorder.