What is Tay-Sachs Disease?

Tay-Sachs disease belongs to the group of autosomal-recessive lysosomal storage metabolic disorders, most commonly occurring in children. This disease is caused by absence of beta-hexosaminidase A (HexA) enzyme that helps break down fatty substances (ganglioside), resulting in ganglioside accumulation predominantly in lysosomes of nerve cells thus affect the function of nerve cells. As the disease progresses, the affected child loses muscle skills and eventually this will leads to vision and hearing loss, intellectual disability, paralysis and death.