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Sep 22, 2023 · Pompe disease is a type of glycogen storage disease, a genetic condition in which a complex sugar called glycogen builds up in your body’s cells. The disease results from the deficiency of a digestive enzyme called acid alpha-glucosidase (GAA).
May 6, 2022 · Pompe disease is a rare genetic condition that affects only 1 person in 40,000 in the United States. Early onset tends to have lower survival rates.
Jun 10, 2022 · Pompe disease happens when your body can't make a protein that breaks down a complex sugar, called glycogen, for energy. Too much sugar builds up and damages...
What is Pompe disease? Pompe disease (also known as acid-maltase disease and glycogen storage disease II) is a rare genetic disorder that causes progressive weakness to the heart and skeletal muscles.
Jan 18, 2024 · Pompe disease is a rare disease continuum with variable rates of disease progression and different ages of onset. First symptoms can occur at any age from birth to late adulthood. Earlier onset compared to later onset is usually associated with faster progression and greater disease severity.
Dec 22, 2020 · Pompe disease is a rare genetic condition that causes an abnormal buildup of glycogen, a sugar molecule, inside your cells. That buildup can impair how some of your organs and tissues function. The most commonly affected body areas are the heart, respiratory system , and skeletal muscles.
Oct 10, 2022 · Pompe disease is a rare genetic disorder that’s caused by the body’s inability to break down glycogen, a stored form of glucose, which is the body’s main form of energy.
