- 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
- 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
- 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
- Pompe Disease: Symtoms, Causes, Treatments - WebMD
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 muscles and organs Pompe
- What is Pompe Disease? What are the symptoms of Pompe Disease . . . - Labcorp
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
- Pompe Disease: a Clinical, Diagnostic, and Therapeutic Overview
This review summarizes the clinical presentation and provides an update on the current strategies for diagnosis of Pompe disease We will review the available treatment options
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