Definition:
Tay-Sachs disease (TSD, also known as GM2 gangliosidosis, Hexosaminidase A deficiency or Sphingolipidosis) is a genetic disorder, fatal in its most common variant known as Infantile Tay-Sachs disease.
Diagnosis:
Genetic screening for carriers of Tay-Sachs disease is possible due to an inexpensive enzyme assay test is available. It detects lower levels of the enzyme called hexosaminidase A in serum.
Treatment:
There is currently no cure or treatment known for TSD. Even with the best care, children with Infantile TSD die by the age of 5, and the progress of Late-Onset TSD can only be slowed down, not reversed.
Symptoms and Signs:
All patients with Tay-Sachs disease have a "cherry-red" spot, easily seen by a physician using an ophthalmoscope, in the back of their eyes (the retina). This red spot is the area of the retina which is highlighted because of gangliosides in the surrounding retinal ganglion cells (which are neurons of the central nervous system).
Causes:
The disease arises when harmful quantities of a fatty acid derivative called a ganglioside accumulate in the nerve cells of the brain. Gangliosides are lipids, components of cellular membranes, and the ganglioside GM2, implicated in Tay-Sachs disease, is especially frequent in the nervous tissue of the brain
