The 1278insTATC mutation is the most common cause of this disease, and is thought to have originated circa 800 AD in central Europe. That mutation causes the accumulation of sialylated glycosphingolipids in the brain, owing to a defect in hexosaminidase A, as contrasted with Sandhoff disease, in which hexosaminidase B is al
The 1278insTATC mutation is the most common cause of this disease, and is thought to have originated circa 800 AD in central Europe. That mutation causes the accumulation of sialylated glycosphingolipids in the brain, owing to a defect in hexosaminidase A, as contrasted with Sandhoff disease, in which hexosaminidase B is also affected. Thus, people with this disease are unable to properly hydrolyze gangliosides in their lysosomes. It presents with a characteristic red macula and usually leads to death by age 4. For 10 points, name this incurable genetic disease that is common in Ashkenazi Jews.
The 1278insTATC mutation is the most common cause of this disease, and is thought to have originated circa 800 AD in central Europe.