Treatment of Myogenic Hyperuricemia:Allopurinol Effects in Muscle Phosphofructokinase Deficiency

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We studied effects of allopurinol administration on purine metabolism and serum creatine kinase turnover in a patient with muscle phosphofructokinase (PFK) deficiency (glycogenosis type VII, or Tarui's disease).Allopurinol (200-300mg/day) was adiministered to the patient for approximately two years. The serum uric acid levels were decreased from 15.0mg/dl to 6.0mg/dl by the treatment, whereas plasma oxypurine levels were increased markedly. Plasma oxypurine levels during the treatment were six times higher in the PFK-deficient patient than in patients with primary gout due to overproduction of uric acid. The increased urinary excretion of uric acid in the patient was normalized with allopurinol, and the urinary excretion of total purines (sum of uric acid, xanthine and hypoxanthine) was decreased to about the half of the pretreatment value.The patient performed bicycle-ergometer exercise with or without allopurinol (100mg p. o. ). In the both tests, plasma xanthine and hypoxanthine were increased markedly after exercise. Serum uric acid and creatine kinase were increased after exercise without allopurinol, whereas they remained unchanged in the test even after exercise with allopurinol.These findings suggest the therapeutical usefulness of allopurinol to prevent hyperuricemia and to releave muscles from injury secondary to muscle energy crisis in muscle PFK deficieny.
Japanese Society of Gout and Nucleic Acid Metabolismの論文