Pompe disease is a genetic condition in which a complex sugar called glycogen builds up in the lysosomes of your body’s cells. The disease occurs when you lack a specific digestive enzyme called …

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 …

1 day ago · New research from Duke University shows patients diagnosed with infantile-onset Pompe disease are surviving into their 20s thanks to early treatment.

The muscle weakness in this disorder leads to serious breathing problems and most children with non-classic infantile-onset Pompe Disease live only into early childhood.

Find information about newborn screening for Pompe disease, including causes, signs, symptoms, and treatment.

Pompe disease tend to begin after the first year, but these can develop a late as adulthood. Typically, this form of Pompe disease does not involve heart enlargement. In general, the e

Developed with the expertise of Barbara K. Burton, MD, Northwestern University Feinberg School of Medicine, Ann & Robert H. Lurie Children’s Hospital of Chicago, Illinois.

Nov 4, 2024 · People with Pompe disease have a deficiency in functional alpha-glucosidase, resulting in glycogen accumulation inside cells, especially muscle cells, damaging them.

Aug 21, 2025 · GAA deficiency leads to accumulation of glycogen within the lysosome in all tissues (figure 1). The defect in the lysosomal GAA enzyme affects lysosomal-mediated degradation of …

Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs …