Abstract
McArdle's disease (glycogenosis type V) is a metabolic disorder of hydrocarbons, inherited with autosomic recessive pattern. Biochemically is defined by a myophosphorylase deficiency; clinically it is characterized by exercise intolerance, due to the impossibility of providing energetic substrate to the muscle, myalgias and stiffness. We present a case report of a patient with McArdle's disease and we comment the diagnostic procedures and current therapeutic options.
Publication types
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Case Reports
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English Abstract
MeSH terms
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Adult
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Creatine Kinase / blood
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Dietary Proteins / therapeutic use
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Glycogen / analysis
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Glycogen Storage Disease Type V / diagnosis*
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Glycogen Storage Disease Type V / diet therapy
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Glycogen Storage Disease Type V / genetics
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Glycogen Storage Disease Type V / metabolism
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Glycolysis
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Humans
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Male
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Muscle, Skeletal / chemistry
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Muscle, Skeletal / pathology
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Myoglobinuria / etiology
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Phosphorylases / deficiency*
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Physical Exertion
Substances
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Dietary Proteins
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Glycogen
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Phosphorylases
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Creatine Kinase