Three patients with AMP deaminase deficiency (AMPD deficiency) performed exercise on a bicycle ergometer with increasing work load without and with administration of ribose (3 g p.o. every 10 min, beginning 1 h before exercise until the end). The patients performed exercise until heart rate was 200 minus age. Maximum capacity was not increased by administration of ribose, but postexertional muscle stiffness and cramps disappeared almost completely in 2 of 3 AMPD-deficient patients. Plasma concentrations of lactate and inosine were increased in AMPD-deficient patients after oral administration of ribose. Our data suggest that ribose may both serve as an energy source and enhance the de novo synthesis of purine nucleotides.

Keywords:
Myoadenylate deaminase deficiency, AMP deaminase deficiency, D-ribose, Muscle metabolism
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© 1991 S. Karger AG, Basel
1991
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