6 patients with AMPD-deficiency and 6 control subjects performed exercise on a bicycle ergometer until heart rate was 200 minus age. During exercise the increase of ammonia plasma concentrations was reduced in AMPD-deficient patients compared with that of control subjects. Plasma concentrations of lactate, pyruvate, inosine, hypoxanthine and xanthine increased during exercise in both groups. The concentrations of lactate, inosine and hypoxanthine were lower in AMPD-deficient patients during exercise, the difference was not significant. In AMPD-deficient patients the ATP-concentrations of red blood cells increased during exercise in contrast to control subjects, whereas the ADP amount did not change significantly. Our data suggest that in AMPD-deficient-patients AMP is mainly reduced to adenosine during exercise resulting in decreased ammonia concentrations. The increased concentrations of ATP in red blood cells may be the consequence of increased phosphorylation.
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