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McArdle's disease. Apropos of a case

Yuste, J.R.; Beloqui, O.; De la Peña, A.; Rodríguez-Rosado, R.; Monreal, J.I.; Prósper, F.; Prieto, J.

Revista de Medicina de la Universidad de Navarra 42(1): 29-33

1998

ISSN/ISBN: 0556-6177
PMID: 10420954
Document Number: 494492
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.

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