[McArdle's disease. Apropos of a case]

Rev Med Univ Navarra. 1998 Jan-Mar;42(1):29-33.
[Article in Spanish]

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

  • Case Reports
  • English Abstract

MeSH terms

  • Adult
  • Creatine Kinase / blood
  • Dietary Proteins / therapeutic use
  • Glycogen / analysis
  • Glycogen Storage Disease Type V / diagnosis*
  • Glycogen Storage Disease Type V / diet therapy
  • Glycogen Storage Disease Type V / genetics
  • Glycogen Storage Disease Type V / metabolism
  • Glycolysis
  • Humans
  • Male
  • Muscle, Skeletal / chemistry
  • Muscle, Skeletal / pathology
  • Myoglobinuria / etiology
  • Phosphorylases / deficiency*
  • Physical Exertion

Substances

  • Dietary Proteins
  • Glycogen
  • Phosphorylases
  • Creatine Kinase