In some glycogen storage disease of the muscles, particularly muscle phosphorylase deficiency (GSD type V), the impaired glycogen degradation causes exercise interolerance. This is associated with muscle stiffness, weakness, and pain on exertion. Semi-ischemic forearm exercise or bicycle ergometer exercise discloses no elevation of the venous lactate level, but marked increases of serum creatine kinase, ammonia, inosine, and hypoxanthine. These purine metabolites serve as substrates for the synthesis of uric acid, leading to hyperuricemia (myogenic hyperuricemia). In GSD type V glucagon administration augments exercise tolerance and exercise-induced lactate production by muscles. Administration of glucose or glucose plus insulin causes similar beneficial effects. The “second wind” phenomenon occurs frequently in GSD type V. Oral administration of coenzyme Q10 improves the exercise tolerance, at least subjectively.
In glycolysis defects in muscles, similar muscular symptoms appear and the serum creatine kinase level increases. Myogenic hyperuricemia may occur. No beneficial effect of glucagon treatment has been reported.
Mypopathy associated with increased hemolysis occurs in muscle phosphofructokinase deficiency (GSD type VII). Myogenic hyperuricemia develops. Neither a glucagon nor glucose effect is observed. Glucose tolerance is slightly impaired, and the “second wind” phenomenon occurs very rarely in GSD type VII.
Vigorous exercise should be avoided for every patient in each group of defects due to a risk of acute renal failure secondary to rhabdomyolysis (myoglobinuria) and of gout.
KeywordsLactate Fructose Hyperglycemia Glucagon Purine
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