Tay-Sachs Disease (TSD)

An inborn error of metabolism that affects brain function.  Caused by mutations for the gene encoding the lysosomal enzyme, a subcellular organelle that degrade large molecules presented to them by the cell’s own machinery.  It causes a buildup of substances called sphyngolipids that affect the central nervous system in the brain.  There are three types, infantile, juvenile, and adult, or late onset.  It is usually fatal.  Tay-sachs affects mostly Jews of European ancestry.