UVA Lysosomal Storage Disease Program

The Division of Medical Genetics at the University of Virginia Health System provides comprehensive care for individuals throughout the State of Virginia who have lysosomal storage diseases (LSDs).

Our Services include:

LSDs are a group of disorders caused by deficient enzymes in the lysosomes. Enzymes are molecules that are responsible for breaking down large molecules into smaller molecules. If an enzyme is missing or does not work properly, the large molecules remain in the cell and build up. The inappropriate accumulation of different molecules results in a multi-system disease that affects multiple parts of the body.

Treatments and new therapies are available for a number of LSDs. One type of clinically available treatment is Enzyme Replacement Therapy (ERT). ERT replaces the missing enzyme to halt the accumulation of storage material in different tissues of the body. Enzyme Replacement Therapy is available on a clinical or research basis for a number of these diseases including Fabry disease, Gaucher disease, Pompe disease, mucopolysaccharidosis type 1 (Hurler syndrome), type 2 (Hunter syndrome), and type 6 (Maroteaux-Lamy syndrome).