The primarily metabolic defect in Duchenne muscular dystrophy (DMD) is still unknown. In addition to the disturbance of muscle cell and erythrocyte membranes of patients with DMD an impairment of purine metabolism has been suggested on the basis of the decreased ATP content of the muscle fibers. To avoid the leakage of adenine nucleotides from cells, allopurinol has been administered to DMD patients to increase the formation of adenine nucleotides via the salvage pathway. The purpose of this study was to investigate this hypothesis of an effect of allopurinol on the formation of adenine nucleotides. Furthermore, the clinical status of allopurinol-treated DMD patients was examined. Biochemical studies were performed on erythrocytes of 19 patients with DMD, and adenine nucleotide concentrations and the incorporation of 14C-adenine into purine nucleotides were assessed before and after 6 months of allopurinol therapy. No improvement of the clinical status could be observed, although a slight increase in ATP formation was seen.
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