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Tarui's disease

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An inborn error of glycogen metabolism characterized by phosphofructokinase deficiency in the muscles, associated with abnormal deposition of glycogen in muscle tissues. Occasionally, myoglobinuria. The symptoms are similar to those seen in McArdle's disease (Type V glycogenosis).
Occurs in three variants:

  • Classic Tarui disease typically presents in childhood with exercise intolerance and anemia.
  • The fatal infantile variant presents in the first year of life. All patients of reported cases died by age 4 years.
  • The late-onset variant manifests itself during later adulthood with progressive limb weakness without myoglobinuria or cramps.

    Autosomal recessive inheritance. Males are slightly more often affected than females. The eponymic term was introduced by Serratrice et al in 1982. Very rare, only about 40 cases reported. The report of Tarui et al in 1965 was based on 3 adult siblings with exercise intolerance and easy fatigability.

  • Bibliography

    • B. McArdle:
      Myopathy due to a defect in muscle glycogen breakdown.
      Clinical Science, London, 1951, 10: 13-33.
    • S. Tarui, G. Okuno, Y. Ikura, et al:
      Phosphofructokinase deficiency in skeletal muscle. A new type of glycogenosis.
      Biochemical and Biophysical Research Communications, San Diego, California, 19: 517-523.
    • B. I. Brown, D. H. Brown:
      Glycogen-storage diseases: Types I, III, IV, V, VII and unclassified glycogenoses.
      In: F. Dickens, P. J. Randle, W. J. Wheelan, editors: Carbohydrate Metabolism and its Disorders, volume 2, pp.123-150. Academic Press, London & New York, 1968.
    • S. Tarui, N. Kono, T. Nasu, M. Nishikawa:
      Enzymatic basis for the coexistence of myopathy and hemolytic disease in inherited muscle phosphofructokinase deficiency.
      Biochemical and Biophysical Research Communications, San Diego, California, 1969, 34: 77-83.
    • J. N. Walton:
      Tarui's disease. In: D. J. Weatherall, J. G. G. Ledingham, D. A. Warrell, editors: Oxford Textbook of Medicine. Oxford University Press, Oxford, 1983, pp. 22.20.
    • G. Serratrice, J. L. Gastaut, J. F. Pellissier, J. Pouget, C. Desnuelle, D. Cros:
      Deficit en phosphofruktokinase musculaire (glycogenose type VII ou maladie de Tarui). In: Maladies Musculaires, Paris : Masson, 1982, pp. 191-192.
    • S. I. Magalini, S. C. Magalini, G. Francisi:
      Tarui's Syndrome. In: Dictionary of Medical Syndromes, page 860. Philadelphia: JB Lippincott Co, 1990.

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