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 …

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 …

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

Because Pompe is a rare condition, care providers who have worked with Pompe patients are hard to come by. Getting the best care often means seeking out a professional with …

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 …

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 …

1 day 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 …

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