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Metabolic Myopathies

  Symptoms

  Glycolytic Defects

  Lipid Defects

  Mitochondrial Myopathies

  Pathophysiology

  Inheritance

  Other

Click to view figure

Muscle Glycolytic
Defects Figure

Glycolytic Defects

Myophosphorylase Deficiency (McArdles Disease)
Phosphofructokinase Deficiency (Tarui's Disease)
Phosphoglycerate Mutase
Phosphoglycerate Kinase
Lactate Dehydrogenase
Debrancher
Phosphorylase Kinase
Acid Maltase
Brancher
Glycogen NOS

Patients with most muscle glycolytic defects (particularly muscle phosphorylase, PFK, phosphoglycerate kinase, phosphoglycerate mutase, and lactate dehydrogenase deficiency), experience dynamic symptoms of exercise intolerance in which symptoms of fatigue, cramps, and pain are related specifically to the increased energy demands of exercise.