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McArdle Disease (GSD5): What It Is, Symptoms Treatment McArdle disease happens when you have a deficiency or complete lack of an enzyme called muscle glycogen phosphorylase (myophosphorylase) This issue causes symptoms like painful muscle cramps and weakness, especially during physical activity
McArdle Disease - Cedars-Sinai What causes McArdle disease? McArdle disease is an inherited disease It results from changes (mutations) in the gene for the enzyme muscle phosphorylase Your muscle cells can’t make this enzyme So they can’t break down glycogen into glucose Your muscles need glucose to work their best
Glycogen storage disease type V: MedlinePlus Genetics Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells
McArdle disease | Description, Symptoms, Treatment | Britannica McArdle disease, rare hereditary deficiency of the enzyme glycogen phosphorylase in muscle cells In the absence of this enzyme, muscles cannot break down glycogen to meet the energy requirements of exercise Learn more about the cause, symptoms, and treatment of McArdle disease
Understanding McArdle Disease | UMass Memorial Health What causes McArdle disease? McArdle disease is a genetic disease It is caused by changes (mutations) in the gene for the enzyme called muscle phosphorylase Your muscle cells can’t make this enzyme and then can’t break down glycogen into glucose Your muscles need glucose to work well
Phosphorylase deficiency (McArdle disease) - Types of Metabolic . . . What is phosphorylase deficiency (McArdle disease, myophosphorylase deficiency, glycogenosis type 5)? This disease is one of a group of metabolic muscle diseases that interferes with the processing of food (in this case, carbohydrates) for energy production
Myophosphorylase Deficiency (McArdle Disease) - UC Health McArdle disease is a muscle disorder in which the muscles cannot break down glycogen, a type of complex sugar derived from glucose in the food that we eat The chemical reaction that breaks down glycogen requires an enzyme called myophosphorylase
McArdles Disease - Physiopedia McArdle disease is a genetic disorder that mainly affects skeletal muscles It occurs due to the deficiency or absence of an enzyme called myophosphorylase, a key substance that the muscles need to break down glycogen into sugar (glucose) for energy