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[McArdle's disease in four pediatric patients. Diagnostic algorithm for exercise intolerance].

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McArdle disease, a genetic myopathy, involves muscle myophosphorylase deficiency. Early diagnosis and dietary treatment can significantly improve symptoms in affected children.

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Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • McArdle disease results from PYGM gene mutations, leading to muscle myophosphorylase deficiency and impaired glycogenolysis.
  • Symptoms include fatigue, myalgia, and rhabdomyolysis, often diagnosed late despite childhood onset.
  • Creatine kinase levels elevate sharply during exercise.

Purpose of the Study:

  • To present four pediatric cases of McArdle disease.
  • To summarize the pathophysiology of the condition.
  • To propose a diagnostic algorithm for McArdle disease.

Main Methods:

  • Evaluation of pediatric patients aged 6-14 years.
  • Utilized anamnesis, physical examination, biochemistry, electromyography, ischemia testing, and genetic studies.
  • Developed a diagnostic algorithm based on ischemia test results.

Main Results:

  • Patients experienced myalgias post-exercise; one reported 'second wind' phenomenon.
  • Ischemia tests showed no lactate elevation but marked ammonia elevation.
  • Genetic analysis revealed homozygous PYGM mutations; dietary treatment aided aerobic exercise symptoms.

Conclusions:

  • The ischemia test is valuable for identifying anaerobic glycolysis dysfunction.
  • Oral glucose supplementation benefits McArdle disease but is contraindicated in other anaerobic glycolysis defects.
  • The diagnostic algorithm aids in identifying various metabolic and structural myopathies.