What causes the build up of ganglioside?

Answer 1

Ganglioside build up is a dangerous thing. It can be attributed to a hexosaminidase A (or "HEX A") deficiency. HEX A is the enzyme that catalyzes the reactions to break down the fatty gangliosides in your brain, particularly ganglioside GM2. With a HEX A deficiency, this enzyme is either faulty or not present at all. Ordinarily, gangliosides (fatty substances in the nerve tissues of the brain) get broken down by this enzyme to maintain an appropriate balance of the substance. But, with a HEX A deficiency, there is either no protein (enzyme) to break them down or the HEX A protein cannot do a sufficient job of breaking them down. The result of this is fatty ganglioside build up in nerve tissue, which causes a plethora of different symptoms depending on the particular gene that caused the HEX A deficiency. Tay-Sachs disease is an example of a HEX A deficiency that lacks the protein entirely. To show how severe this is, children who have this disease ordinarily don't live past the age of four, and symptoms include but are not limited to deafness, blindness, loss of motor skills, and dementia.

Answer 2

Ganglioside buildup can be caused by genetic mutations that impair the enzymes responsible for breaking down gangliosides. This can lead to lysosomal storage disorders such as Tay-Sachs disease or Sandhoff disease.