Tay-Sachs disease, computer illustration - Stock-Grafiken

Tay-Sachs disease. Computer illustration showing a child with macrocephaly, and a close-up view of swollen neurons with lamellar inclusions due to accumulation of gangliosides. Tay-Sachs disease is a lysosomal storage genetic disorder that progressively destroys brain neurons. It is caused by a mutation in the HEXA gene of chromosome 15 leading to deficiency of hexosaminidase A. Tay-sachs is most commonly seen in infants, manifesting in muscle weakness and decreased motor function, vision and hearing loss, and intellectual disability.