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 …

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.

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

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 …

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

Updates in Pompe Disease: Overview and Emerging Treatment Strategies Overview1-3 Pompe disease (aka glycogen storage disease type II [GSD II] or acid maltase deficiency [AMD]) is a …

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 …

Aug 21, 2025 · Acid alpha-glucosidase (GAA, also called acid maltase) deficiency (Pompe disease, MIM #232300) was the first identified lysosomal storage disease. It is also classified …

Pompe Disease, also known as Glycogen Storage Disease Type II, is a rare but significant genetic disorder that affects the body’s ability to break down glycogen, a form of stored sugar.