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 …

Pompe disease, also known as glycogen storage disease type II (GSD II) or acid maltase deficiency (AMD), is a genetic disorder caused by a deficiency of the acid alpha-glucosidase …

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

May 6, 2022 · Pompe disease is a rare genetic condition that affects only 1 person in every 40,000 people in the United States, according to the National Institute of Neurological …

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.

Lumizyme replaces the missing enzyme directly into the bloodstream. What does it look like? It is a liquid in a plastic bag, which is connected to a small tube to deliver it directly into a patient’s …

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 …

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 …