The Multidisciplinary Lysosomal Storage Disease clinic at Penn Medical Genetics provides comprehensive care for patients who have or are suspected to have a lysosomal storage disease (LSD). LSDs are a group of disorders in which certain substances build up in a particular part of the body’s cells – the lysosomes. Lysosomes contain special proteins that enable the cell to digest or recycle many of the body’s chemicals and molecules. LSDs result when one of these proteins is absent or is not functioning properly. With time, this leads to accumulation of specific substances within the lysosome, with damage and symptoms in the specific organs requiring that protein. There are more than 50 different LSDs, and each affects the body and specific organs differently. Together these diseases affect between 1 in 5000 to 1 in 8000 people. The most common of these diseases in adults are Fabry disease, Gaucher disease, and Pompe disease.

The Multidisciplinary LSD clinic consists of many specialists throughout the health system to help diagnose LSDs and to manage and treat their organ-specific complications. These diagnoses can be difficult to recognize and patients often undergo a lengthy diagnostic process.

For patients receiving infusion services, the LSD clinic offers infusions at a number of centers throughout the Philadelphia region as well as home infusion services. The LSD clinic also benefits from Penn Orphan Disease Center. The Orphan Disease Center facilitates translational research and therapy development for ultra-rare orphan diseases.

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