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Pompe Disease: Symptoms Treatment - Cleveland Clinic Pompe disease is a type of glycogen storage disease, a genetic condition in which a complex sugar called glycogen builds up in your body’s cells The disease results from the deficiency of a digestive enzyme called acid alpha-glucosidase (GAA) GAA normally breaks down complex sugars in your body
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 There are three types of Pompe disease that differ in signs and symptoms and age of onset These three types are known as classic infantile-onset, nonclassic infantile-onset, and late-onset The type your baby has depends on how well their body can break down glycogen
Pompe disease diagnosis and management guideline - PMC Pompe disease is a rare, progressive, and often fatal muscular disease The underlying pathology is a deficiency of the enzyme acid alpha-glucosidase (GAA) that hydrolyzes lysosomal glycogen
Home | Pompe Alliance Information on Pompe Disease and resources to help find help and information surrounding Pompe Disease Find physicians, read FAQs, and learn about Pompe Disease
What is Pompe disease? | Pompe Disease News 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 workings of different organs and tissues, especially the heart and other kinds of muscle
What is Pompe Disease - Muscular Dystrophy Association Pompe is classified as a metabolic muscle disorder, one of a group of diseases that interferes with processing and storage of complex sugars (carbohydrates) The build-up of sugar molecules in muscle cells causes them to break down
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