death of the affected. The disease is found in a mutation on the HEXA gene. The HEXA gene makes beta-Hexosaminidase A, an enzyme that is necessary for proper spinal cord and brain development. This works to break down GM2 ganglioside, a fatty substance. When a mutation occurs here, the GM2 ganglioside can’t be broken down, accumulating to harmful levels in neurons of the brain and spinal cord, which results in the damaging symptoms of the disease. There are a few forms of the disease, but the most common
storage of GM2 (ganglioside), and dissimilar from all cases of Tay-Sachs disease studied thus far. He also discovered that the globoside amassed in the internal organs and, hexosaminidase activity was almost entirely non-existent. Aside from being the first to give a biochemical description of GM-gangliosides in 1963 and discovering Sandhoff’s disease in 1968, Konrad Sandhoff also discovered several biochemically distinct diseases—namely Tay-Sachs-Disease, the AB-variant of GM2-Gangliosidosis and the