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Metabolic Myopathies

Symptoms

Glycolytic
Defects

Lipid
Defects

Mitochondrial
Myopathies

Pathophysiology

Inheritance

Other

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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.
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