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 …

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 …

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

Pompe (“Pom-pay”) disease, also known as glycogen storage disease type II, is an inherited condition caused by a faulty gene. In Pompe disease, an enzyme that helps the body use …

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.

Nov 19, 2024 · Pompe disease is a rare genetic condition that is characterized by the abnormal buildup, inside cells, of a complex sugar molecule called glycogen. This buildup impairs the …

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.

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

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 your …

Pompe disease is caused by mutations in the GAA gene. Mutations in the GAA gene result in the deficiency of an enzyme, acid alpha-glucosidase, that is necessary for the breakdown of a …