Genetics

Lysosomal Storage Disease Information

The lysosome is a compartment in the cell that contains enzymes that functions to break down complex fatty molecules into simpler ones. When these lysosomal enzymes do not work properly, this can lead to a buildup of the fatty molecules in the lysosomes, a sign of a lysosomal storage disorder (LSD). As of 2018, there are more than 50 known LSDs that have been described to date and they represent a group of disorders with widely variable symptoms that require multidisciplinary care.

Although these disorders can be individually rare, together they affect many people around the world.