McArdle's disease. Apropos of a case
Magazine: Revista de Medicina de la Universidad de Navarra
Date: Feb 1, 1998Biochemistry [SP] Hematología y Hemoterapia [SP] Internal Medicine [SP]
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.
CITATION Rev Med Univ Navarra. 1998 Jan-Mar;42(1):29-33
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