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John Vissing, MD, PhD; Bjørn Quistorff, MD, PhD; Ronald G. Haller, MD

Arch Neurol. 2005;62:1440-1443.

Background  Muscle phosphoglycerate mutase deficiency (PGAMD) is a rare, recessively inherited metabolic myopathy that affects one of the last steps of glycolysis. Clinically, PGAMD resembles muscle phosphorylase deficiency (McArdle disease) and phosphofructokinase deficiency (PFKD). However, it is unknown whether PGAMD is associated with a second-wind phenomenon during exercise, as in McArdle disease, and whether patients with PGAMD, like patients with PFKD and McArdle disease, benefit from supplementation with fuels that bypass the metabolic block.

Objective  To investigate whether fuels that bypass the metabolic block can improve exercise capacity or whether exercise capacity improves during sustained exercise.

Design  Single-blind, placebo-controlled investigation of the effects of glucose, lactate, and intralipid on work capacity in patients with PGAMD.

Setting  National University Hospital, University of Copenhagen, and Neuromuscular Center, Institute for Exercise and Environmental Medicine.

Patients  Two unrelated men (21 and 26 years old) with PGAMD who since their teens had experienced muscle cramps, muscle pain, and episodes of myoglobinuria provoked by brief vigorous exercise, 4 patients with McArdle disease (mean ± SD age, 32 ± 5 years) with 0% residual phosphorylase activity in muscle, and 6 healthy, untrained male volunteers (mean ± SD age, 23 ± 1 years) were studied.

Interventions  Using constant and variable workload protocols on a cycle ergometer, it was investigated whether a spontaneous second wind occurs during exercise in patients with PGAMD, and using a constant workload protocol followed by an incremental load to exhaustion, it was tested whether infusion of lactate, glucose, or intralipid alters the exercise tolerance in PGAMD.

Main Outcome Measures  Whether a second wind occurs during exercise and whether fuels that bypass the metabolic block can improve exercise and oxidative capacity.

Results  In contrast to patients with McArdle disease, with whom they share many clinical features, in patients with PGAMD, cycle exercise and oxidative capacity are virtually normal, a second wind does not occur, and lipid and lactate supplements do not improve exercise capacity.

Conclusion  Although the clinical manifestations of PGAMD mimic McArdle disease with respect to the presence of exertional muscle cramps, rhabdomyolysis, and myoglobinuria, this study shows that cycle exercise responses are strikingly different.

Author Affiliations: Copenhagen Muscle Research Center (Dr Vissing) and Department of Neurology (Dr Vissing), National University Hospital, Rigshospitalet, and NMR Center, Panum Institute, University of Copenhagen (Dr Quistorff), Copenhagen, Denmark; and Departments of Neurology, Veterans Affairs Medical Center and the University of Texas Southwestern Medical Center, and Neuromuscular Center, Institute for Exercise and Environmental Medicine, Presbyterian Hospital, Dallas (Dr Haller).

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