Table 2

Summary of inherited metabolic causes of exertional rhabdomyolysis

Metabolic pathwayTriggerBaseline CKBaseline weaknessExamples
Glycogen metabolismEarly onset after intense exerciseOften highMay develop in later life
  • McArdle’s disease (second wind phenomenon)

  • Tarui’s syndrome (↑exercise tolerance when fasting, compensated haemolysis)

  • Lactate dehydrogenase-A deficiency (photosensitive rash)

Fatty acid metabolismLater onset after prolonged exercise or illness/fastingNormalUnusual
  • Carnitine palmitoyltransferase (diffuse exertional weakness, respiratory failure)

Mitochondrial metabolismEarly or late onset, prominent fatigueNormal or highPossible
  • Coenzyme Q10 (encephalopathy, ataxia, convulsions)

  • Cytochrome B/C (onset after mild exercise)

  • CK, creatine kinase.