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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 - 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
  • Pompe Disease: a Clinical, Diagnostic, and Therapeutic . . .
    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 (GAA) enzyme, due to recessive mutations in the GAA gene, which leads to accumulation of lysosomal glycogen [1], diffusely but primarily affecting the skeletal and car
  • Pompe Disease: Types, Symptoms, Treatments, Outcome - Healthline
    Pompe disease is a rare genetic condition that affects only 1 person in 40,000 in the United States Early onset tends to have lower survival rates
  • 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
  • What is Pompe Disease? What are the symptoms of . . . - Labcorp
    What is Pompe Disease? Pompe disease is an inherited disorder characterized by muscle weakness, respiratory insufficiency and, in some forms, enlargement of the heart 1 It involves deficiency of the enzyme acid α-glucosidase, which normally breaks down glycogen (stored sugar in the body) Symptoms associated with Pompe disease are
  • Pompe Disease | Newborn Screening
    What is Pompe disease? Pompe disease is an inherited (genetic) condition that prevents the body from processing sugars properly Pompe disease is named for the first doctor to describe the condition Your body stores extra sugar as glycogen, which it then uses for energy





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