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Bookmark or Share- Pompe Disease: Symptoms & Treatment - Cleveland ClinicPompe 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). The condition causes severe muscle weakness and wasting. Without early detection and treatment, the disease can be fatal.
- Glycogen storage disease type II - WikipediaGlycogen storage disease type II (GSD-II), also called Pompe disease, and formerly known as GSD-IIa or LGMD 2V, is an autosomal recessive metabolic disorder [1] which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme (GAA).
- Pompe Disease - National Institute of Neurological Disorders and StrokePompe disease (also known as acid-maltase disease and glycogen storage disease II) is a rare genetic disorder that causes progressive weakness to the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA), which the body uses to break down glycogen, a stored form of sugar used ...
- Pompe Disease: Symtoms, Causes, Treatments - WebMDPompe 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...
- Pompe Disease: a Clinical, Diagnostic, and Therapeutic OverviewPompe 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 , diffusely but primarily affecting the skeletal and ...
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