- Pompe Disease: Symptoms Treatment - Cleveland Clinic
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 called acid alpha-glucosidase (GAA)
- Pompe Disease - Symptoms, Causes, Treatment | NORD
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 adulthood Earlier onset compared to later onset is usually associated with faster progression and greater disease severity
- Glycogen storage disease type II - Wikipedia
Glycogen storage disease type II (GSD-II), also called Pompe disease, and formerly known as GSD-IIa or Limb–girdle muscular dystrophy 2V, is an autosomal recessive metabolic disorder [1] which damages muscle and nerve cells throughout the body
- Pompe Disease | Newborn Screening
Find information about newborn screening for Pompe disease, including causes, signs, symptoms, and treatment
- Pompe Disease - GeneReviews® - NCBI Bookshelf
Traditionally, Pompe disease has been separated into two major phenotypes – infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD) –based on age of onset, organ involvement (i e , presence of cardiomyopathy), severity, and rate of progression
- You have Pompe disease, it doesnt have you
Learn how Pompe disease affects your muscles and the impact it can have on breathing and mobility Managing Pompe disease requires more than the medical treatment prescribed by your doctor Learn about the roles that diet, activity, and mental health support can also play
- Pompe Disease | UPMC Children’s Hospital of Pittsburgh
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 glucose for energy is missing or not working properly
- Newborn Screening FACT Sheet Pompe Disease
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
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