Tay-Sachs disease
Tay-Sachs disease is a rare genetic disorder caused by a deficiency of the enzyme hexosaminidase A. This enzyme is essential for breaking down a fatty substance called GM2 ganglioside in the brain and nerve cells. Without this enzyme, GM2 accumulates, leading to progressive damage to the nervous system.
Symptoms of Tay-Sachs disease typically appear in infants around six months of age and may include loss of motor skills, increased sensitivity to sound, and a characteristic cherry-red spot in the eye. Unfortunately, there is currently no cure, and affected individuals usually do not survive past early childhood.