Sandhoff disease

Sandhoff disease is a rare inherited lysosomal storage disorder in which the body cannot make working copies of the enzymes beta-hexosaminidase A and B. Without them, the fatty compound GM2 ganglioside and related molecules build up in nerve cells and gradually destroy the central nervous system, with death as the eventual outcome. The condition is passed on in an autosomal recessive pattern, so a child is affected only when both parents carry the mutated gene. It is clinically almost indistinguishable from Tay-Sachs disease. Three forms are recognized by the age at which symptoms first appear: classic infantile, juvenile and adult late onset, the infantile form being the most severe. The source article dates the disease to 1968.