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Related Experiment Videos

[Metabolic intolerance to exercise].

J Arenas1, M A Martín

  • 1Laboratorio de enfermedades mitocondriales y nurometabólicas, Centro de Investigación Hospital Universitario 12 de Octubre, Madrid, Spain. jarenas@h12o.es

Neurologia (Barcelona, Spain)
|July 3, 2003
PubMed
Summary
This summary is machine-generated.

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Clinical genetics·2016

Exercise intolerance can stem from metabolic dysfunctions like McArdle's disease, carnitine palmitoyltransferase II deficiency, or mitochondrial issues. Early diagnosis of these genetic conditions is key for managing symptoms and patient outcomes.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Context:

  • Exercise intolerance is a common clinical complaint.
  • Diagnosis can be challenging, particularly when metabolic dysfunction is the underlying cause.
  • Several genetic metabolic disorders can manifest as exercise intolerance.

Purpose:

  • To review metabolic causes of exercise intolerance.
  • To highlight diagnostic approaches for specific conditions.
  • To discuss genetic mutations associated with these disorders.

Summary:

  • McArdle's disease (myophosphorylase deficiency) presents with a flat lactate curve during ischemic exercise tests, often linked to PYGM gene mutations (R49X, W797R).
  • Carnitine palmitoyltransferase II deficiency is characterized by myoglobinuria triggered by exercise, cold, fever, or fasting, with S113L being a common CPT2 mutation.

Related Experiment Videos

  • Muscle adenylate deaminase deficiency, associated with AMPD1 Q12X mutation, may cause mild myopathy or be asymptomatic, diagnosed by absent enzyme activity and ammonia levels.
  • Mitochondrial respiratory chain deficiencies can cause exercise intolerance, sometimes as the sole symptom, affecting complexes I, III, or IV, or tRNAs. Statin-fibrate use can induce myoglobinuria via Complex IV alterations.

    • Impact:

    • Provides a comprehensive overview of key metabolic etiologies of exercise intolerance.
    • Emphasizes the importance of specific diagnostic tests like the ischemic exercise test.
    • Highlights the role of genetic testing in diagnosing conditions like McArdle's disease and CPT II deficiency.
    • Underscores that exercise intolerance can be the primary manifestation of mitochondrial disorders.