There are more than 40 identified lysosomal storage disorders, all caused by a problem in the process by which enzymes break down waste in cells. Although the outward bodily signs vary widely across the different LSDs, some of the diseases are grouped together based on the particular type of enzyme problem and the kind of waste material that gets stored. For example, a group of diseases called mucopolysaccharidosis (MPS) diseases- MPS I, MPS II, MPS III, etc.- all store certain types of carbohydrates. The most common LSDs among adults are Gaucher disease, Fabry disease, and Niemann-Pick disease (type A).

All together, the LSDs affect 1 in about every 7,700 babies born. Individually, however, each of the diseases is considerably rarer, ranging from about 1 in 57,000 for the most common (Gaucher disease) to about 1 in 4.2 million for the rarest (sialidosis). Because of these diseases’ relative rarity, it can be difficult to find useful educational information about them.

You may also want to visit the Support Center section of this site for other LSD resources and more information websites on specific LSDs.