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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 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
Pompe Disease: Types, Symptoms, Treatments, Outcome - Healthline 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 Disorders and Stroke (NINDS)
How Is Pompe Disease Treated? - WebMD In 2006, the FDA approved the first treatment for Pompe disease It consists of regular IV infusions of a man-made enzyme called alglucosidase alfa The drug does the job of an enzyme in your
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