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.

Aug 31, 2007 · Traditionally, Pompe disease has been separated into two major phenotypes – infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD) –based on age …

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.

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 …

Mar 2, 2024 · Learn about Pompe disease, its causes, symptoms, and treatment options. Discover how early diagnosis and care can improve quality of life.

3 days ago · Most people who’ve heard of Pompe disease know it as a rare genetic disorder that weakens the muscles. They might have read that it’s caused by a deficiency in an enzyme …

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