Pompe disease is a rare genetic, disease that affects the heart and skeletal muscles (estimated 1:40,000 births). Individuals with Pompe disease lack a certain enzyme — alpha-glucosidase — which the body uses to break down glycogen, a stored form of sugar used for energy. As a result, the build-up of excessive glycogen in the body seriously disables the heart and skeletal muscles.
What Causes Pompe Disease?
Early-onset Pompe disease is a result of a complete or near deficiency of the enzyme, alpha-glucosidase. Late onset of the condition is a result of partial deficiency of the enzyme.
What Are the Symptoms of Pompe Disease?
Early-onset symptoms appear in the first months of life. They may include:
Poor weight gain
Late-onset symptoms appear as early as the first decade of childhood or as late as the sixth decade of adulthood. They may include:
How Is Pompe Disease Diagnosed?
Pompe disease can present itself in infancy, childhood or late adulthood. As one of the region’s largest treatment programs for lysosomal diseases, our program at Ann and Robert H. Lurie Children’s Hospital of Chicago treats both children and adults with Pompe; it is staffed by Barbara Burton, MD, and Joel Charrow, MD. To treat all the related symptoms that may present, individuals with the condition are seen by a team of specialists that may include: cardiologists, neurologists and respiratory therapists.
How Is Pompe Disease Treated?
Enzyme replacement therapy is the most common type of treatment for Pompe disease and often proves to be very beneficial as enzyme replacement helps decrease heart size, maintain normal heart function, improve muscle function and reduce accumulation of glycogen. According to Dr. Burton, “Early diagnosis, before symptoms are too advanced and tissue damage is too severe, leads to the best outcome for patients with Pompe disease.”