Increased PFK activity and GLUT4 protein content in McArdle's disease

AbstractInborn errors of metabolism represent an opportunity to conduct studies in order to understand compensatory adaptations to a defective metabolic pathway. We evaluated the molecular and biochemical adaptations in substrate metabolism (glycolysis, electron transport chain, tricarboxylic acid cycle, β‐oxidation) in response to myophosphorylase deficiency in skeletal muscle from 13 patients with McArdle's disease (MD) and 13 age‐matched controls. MD muscle had higher phosphofructokinase protein content and activity as well as glucose transporter 4 (GLUT4) protein content and lower GLUT4 mRNA content than controls. At the protein level, skeletal muscle adaptations suggest an augmented glucose transport and glycolytic flux as a compensatory metabolic strategy to a chronic absence of muscle glycogen phosphorylase. These results support previous findings of increased glucose uptake during exercise and alleviation of symptoms with oral sucrose in patients with MD. Muscle Nerve, 2007

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