hexosaminidase A

Hexosaminidase A is a crucial enzyme that plays a vital role in the breakdown of certain fats called gangliosides within the brain. In individuals with Tay-Sachs disease, a genetic disorder, the activity of hexosaminidase A is abnormally low. This deficiency leads to the accumulation of ganglioside G_M2, particularly in brain cells. This buildup has severe consequences, causing progressive neurological damage and developmental delays, ultimately leading to death in early childhood. While hexosaminidase A is present in healthy individuals, its absence or deficiency is the hallmark of Tay-Sachs disease.12