Medical Definition of Pompe disease

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

Pompe disease: An inherited deficiency of the enzyme alpha-glucosidase which helps the body break down glycogen, a complex carbohydrate that is converted to glucose for energy. Without the enzyme, glycogen builds up in the heart and other muscles, causing extensive damage. There are several different forms of Pompe disease which vary in severity. Pompe disease is inherited in an autosomal recessive manner. Also known as type 2 glycogen storage disease.

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Reviewed on 12/27/2018

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