Tay-Sachs Disease

Tay-Sachs disease is a genetic disorder in which your body stores harmful quantities of a fatty substance called ganglioside (GM2). Usually fat builds up in cells that already contain a lot of fat, I.e. brain or nerve cells. The child inherits the disease from his parents. Both parents must have a mutated chromosome 15, meaning that both are carriers. The child has a 25% chance of actually inheriting the disease. Genes contain a “code” that the cells of your body need to make certain proteins called enzymes, and if the “code” is faulty or does not exist, the body cannot create that certain enzyme. In the case of Tay-Sachs disorder, the missing enzyme is Hexosaminidase A, which leads to the fatty substances being unable to break down and accumulate until the cell ceases to function. Usually nerve and brain cells succumb to this, which leads to deafness, blindness, paralysis, and eventually death. The most common version is infantile Sachs disease, and the uncommon version is adult-onset Tay-Sachs disease, where the symptoms are much milder.