Summary
A patient with typical features of late onset McArdle's disease is described. During forearm ischemic work test the patient exhibited an exaggerated increase in ammonia release, largely exceeding normal values. It is suggested, that this is due to an activation of the myokinase/myoadenylate deaminase pathway. Besides lack of lactate release increased ammonia release during ischemia may be a typical feature of McArdle's disease.
Zusammenfassung
Es wird ein Patient mit einem typischen “late onset” McArdle-Syndrom beschrieben. Während ischämischer Arbeit fand sich bei dem Patienten ein exzessiver Anstieg des Ammoniaks im Plasma. Dies dürfte auf einer Aktivierung der Myokinase/Myoadenylat-Deaminase-Reaktionen beruhen. Neben dem charakteristischerweise fehlenden Laktatanstieg unter ischämischer Arbeit scheint eine vermehrte Ammoniak-Freisetzung für das McArdle-Syndrom typisch zu sein.
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References
Anken HC van, Schiphorst ME (1974) A kinetic determination of ammonia in plasma. Clin Chim Acta 56:151–157
Dubowitz V, Brook MH (1973) Muscle biopsy: A modern approach. Saunders, Philadelphia
Fishbein WN, Armbrustmacher VW, Griffin JL (1978) Myoadenylate deaminase deficiency: A new disease of muscle. Science 200:545–548
Gutmann I, Wahlefeld AW (1974) In: Bergmeyer HU (Hrsg) Methoden der enzymatischen Analyse, Vol 2. Verlag Chemie, Weinheim, S 1510–1514
Lowenstein JH (1972) Ammonia production in muscle and other tissue: The purine nucleotide cycle. Phys Rev 52:382–414
Mauro S di (1979) Muscle phosphorylase deficiency (glycogenosis type V). In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology, Vol 41. North Holland Publishing Company, Amsterdam, pp 185–190
McArdle B (1951) Myopathy due to a defect in muscle glycogen breakdown. Clin Sci 10:13–35
Pearson CM, Rimer DG (1961) A metabolic myopathy due to the absence of muscle phosphorylase. Am J Med 30:502–517
Pernow BB, Havel RJ, Hennings DB (1967) The second wind phenomenon in McArdle's syndrome. Acta Med Scand [Suppl] 427:294–307
Sabina RL, Swain JL, Patten BM, Ashizawa T, O'Brien WE, Holmes EW (1980) Disruption of the purine nucleotide cycle. A potential explanation of muscle dysfunction in myoadenylate deaminase deficiency. J Clin Invest 66:1419–1423
Wheeler Th J, Lowenstein JM (1979) Adenylate deaminase from rat muscle. Regulation by purine nucleotides and orthophosphate in the presence of 150 mM KCl. J Biol Chem 25:8994–8999
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Supported by Deutsche Forschungsgemeinschaft SFB-89 Kardiologie and Volkswagenstiftung
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Rumpf, K.W., Wagner, H., Kaiser, H. et al. Increased ammonia production during forearm ischemic work test in McArdle's disease. Klin Wochenschr 59, 1319–1320 (1981). https://doi.org/10.1007/BF01711182
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DOI: https://doi.org/10.1007/BF01711182