Tay-Sachs Disease: Understanding Hexosaminidase A Deficiency

Hexosaminidase A

Tay-Sachs disease is an autosomal recessive genetic disorder that leads to the accumulation of a fatty substance called ganglioside GM2 in the brain. This accumulation of ganglioside GM2 damages nerve cells and leads to a progressive decline in mental and physical abilities.

Hexosaminidase A is an enzyme that helps to break down ganglioside GM2. In people with Tay-Sachs disease, the hexosaminidase A enzyme is either missing or does not work properly. This leads to the accumulation of ganglioside GM2 in the brain and the development of Tay-Sachs disease.