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

Abstract

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.