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Pompe Disease

Pompe disease is a rare genetic, lysosomal storage 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 breakdown 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.

Causes

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.

Symptoms

Early onset symptoms appear in the first months of life. They may include:
  • Feeding problems
  • Poor weight gain
  • Muscle weakness
  • Floppiness
  • Respiratory difficulties
  • Enlarged heart
  • Enlarged tongue

Late onset symptoms appear as early as the first decade of childhood or as late as the sixth decade of adulthood. They may include:

  • Muscle weakness
  • Respiratory weakness
  • Heart abnormalities

Diagnosis

Pompe disease can present itself at 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 Dr. Burton and Joel Charrow, MD. In order 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.

Treatment

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 geneticist Barbara Burton, MD, “Early diagnosis, before symptoms are too advanced and tissue damage is too severe, leads to the best outcome for patients with Pompe disease.”