McArdle Disease and Exercise Physiology
نویسندگان
چکیده
منابع مشابه
McArdle Disease and Exercise Physiology
McArdle disease (glycogen storage disease Type V; MD) is a metabolic myopathy caused by a deficiency in muscle glycogen phosphorylase. Since muscle glycogen is an important fuel for muscle during exercise, this inborn error of metabolism provides a model for understanding the role of glycogen in muscle function and the compensatory adaptations that occur in response to impaired glycogenolysis. ...
متن کاملGenes and exercise intolerance: insights from McArdle disease.
McArdle disease (glycogen storage disease type V) is caused by inherited deficiency of a key enzyme in muscle metabolism, the skeletal muscle-specific isoform of glycogen phosphorylase, "myophosphorylase," which is encoded by the PYGM gene. Here we review the main pathophysiological, genotypic, and phenotypic features of McArdle disease and their interactions. To date, moderate-intensity exerci...
متن کاملExercise and Preexercise Nutrition as Treatment for McArdle Disease.
McArdle disease is due to an inborn defect in the muscle isoform of glycogen phosphorylase (or "myophosphorylase"), the enzyme that catalyzes the first step of glycogenolysis. This condition is still not fully understood, and although advances in research would help patients immeasurably, these would also enhance our understanding of exercise metabolism. It has been 10 yr since the first publis...
متن کاملTitle: Genes and exercise intolerance: Insights from McArdle disease
32 McArdle disease (glycogen storage disease type V) is caused by inherited deficiency of 33 a key enzyme in muscle metabolism, the skeletal-muscle specific isoform of glycogen 34 phosphorylase, ‘myophosphorylase’, which is encoded by the PYGM gene. Here we 35 review the main pathophysiological, genotypic and phenotypic features of McArdle 36 disease and their interactions. To date, moderate-in...
متن کاملMcArdle disease: a clinical review.
METHODS The clinical phenotype of 45 genetically confirmed McArdle patients is described. RESULTS In the majority of patients (84%), the onset of symptoms was from early childhood but diagnosis was frequently delayed until after 30 years of age. Not all patients could recognise a second wind although it was always seen with exercise assessment. A history of myoglobinuria was not universal and...
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ژورنال
عنوان ژورنال: Biology
سال: 2014
ISSN: 2079-7737
DOI: 10.3390/biology3010157