Priya Kishnani, MD of Duke University School of Medicine provides an update on the latest research about Pompe disease.
Pompe disease is an inherited lysosomal storage disorder in which mutation in the GAA gene leads reduced levels of the GAA enzyme. The net result is a buildup of glycogen in the body’s cells. The accumulation of glycogen can result in numerous problems, most noticeably in the deterioration of muscle tissue.
Without treatment, Pompe disease can be lethal, particularly in those with the more severe infantile-onset form. Enzyme replacement therapy is available to slow the progression of the disease and numerous treatments are in development, including gene therapy.
To learn more about Pompe disease, visit checkrare.com/pompe.
