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Myoadenylate deaminase deficiency: Successful symptomatic therapy by high dose oral administration of ribose

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Summary

A 55 years old patient suffering from exercise-induced muscle pain and stiffness due to primary myoadenylate deaminase deficiency has been successfully treated with D-ribose since 1984: single doses of 4 grams administered at the beginning of exercise prevented the symptoms completely; on continuation of exercise this dose had to be repeated all 10–30 min. Total doses of 50–60 g per day were tolerated without side-effects.

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Abbreviations

AMP, ADP, ATP:

adenosine-5′-monophosphate, diphosphate, -triphosphate

GDP, GTP:

guanosine-5′-diphosphate, -triphosphate

IMP:

inosine-5′-monophosphate

MAD:

myoadenylate deaminase

PRPP:

Phosphoribosylpyrophosphate

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Zöllner, N., Reiter, S., Gross, M. et al. Myoadenylate deaminase deficiency: Successful symptomatic therapy by high dose oral administration of ribose. Klin Wochenschr 64, 1281–1290 (1986). https://doi.org/10.1007/BF01785710

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