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• W2407578051 abstract "Skeletal muscle disorders of glycogenolysis and glycolysis account for most of the conditions collectively termed glycogen storage diseases. Godfrey and Quinlivan outline the distinguishing features of these disorders, and they describe a large European registry, EUROMAC, that has been established to pool and transfer knowledge regarding McArdle disease and other rare disorders of carbohydrate metabolism. Skeletal muscle disorders of glycogenolysis and glycolysis account for most of the conditions collectively termed glycogen storage diseases (GSDs). These disorders are rare (incidence 1 in 20,000–43,000 live births), and are caused by autosomal or X-linked recessive mutations that result in a specific enzyme deficiency, leading to the inability to utilize muscle glycogen as an energy substrate. McArdle disease (GSD V) is the most common of these disorders, and is caused by mutations in the gene encoding muscle glycogen phosphorylase. Symptoms of McArdle disease and most other related GSDs include exercise intolerance, muscle contracture, acute rhabdomyolysis, and risk of acute renal failure. Older patients may exhibit muscle wasting and weakness involving the paraspinal muscles and shoulder girdle. For patients with these conditions, engaging with exercise is likely to be beneficial. Diagnosis is frequently delayed owing to the rarity of the conditions and lack of access to appropriate investigations. A few randomized clinical trials have been conducted, some focusing on dietary modification, although the quality of the evidence is low and no specific recommendations can yet be made. The development of EUROMAC, an international registry for these disorders, should improve our knowledge of their natural histories and provide a platform for future clinical trials." @default.
• W2407578051 created "2016-06-24" @default.
• W2407578051 creator A5048103235 @default.
• W2407578051 creator A5077009027 @default.
• W2407578051 date "2016-05-27" @default.
• W2407578051 modified "2023-09-27" @default.
• W2407578051 title "Skeletal muscle disorders of glycogenolysis and glycolysis" @default.
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