Effect of High-Dose Creatine Therapy on Symptoms of Exercise Intolerance in McArdle Disease

Abstract

MCARDLE DISEASE (glycogenosis type V) is one of the most common metabolic myopathies and is caused by genetic defects of the muscle-specific isozyme of glycogen phosphorylase, which block adenosine triphosphate (ATP) formation from glycogen in skeletal muscle. Typically, patients with McArdle disease have exercise intolerance, with premature muscle fatigue, exercise-induced muscle pain in working muscles, and recurrent myoglobinuria. Treatment of McArdle disease has been unsatisfactory to date and therefore remains an important clinical challenge.