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.

Effects of Oral Ribose on Muscle Metabolism during Bicycle Ergometer in AMPD-Deficient Patients

“…7, 8], That may be attributed to reduced stimulation of glycogenolysis and glycolysis by lack of am monia and IMP [9], The increase of plasma lactate concentrations during muscular exer cise after oral administration of ribose in 2 of 3 AMPD-deficient patients found in our experiments suggests that the beneficial cf-feet of ribose may be due to an additional energy source [2], This hypothesis is in part contradicted by the fact that plasma lactate concentrations of the patient with the best therapeutic effect of ribose (patient 1) re mained unchanged after oral administration of ribose, whereas plasma lactate concentra tions of the patient with no apparent thera peutic effect at all (patient 2) were most increased after oral administration of ri bose.…”

“…Zöllner et al [2] first demonstrated that the oral administration of high doses of ri bose may be a successful therapy in AMPD deficiency. Gross et al [5] from the same laboratory found that orally administered ri bose is absorbed intestinally by 88-100% in both healthy subjects and AMPD-deficient patients.…”

“…826-UV/170-UV); inosine and hypoxanthine were measured by high-performance liquid chromatography (HPLC) as described by Zöllner et al [2].…”

“…The beneficial effect of ribose in AMPD deficiency has only been achieved by high oral doses (3-4 g) administered continuously (every 10 min) during exercise, as first de scribed by Zöllner et al [2]. Lower and not exercise-related doses of 500 mg ribose 4 times a day were not successful.…”

“…Besides oc casionally occurring diarrhea no side effects have been noted during ribose therapy. The beneficial effect of ribose has mainly been attributed to an additional energy source [2] and possibly also to enhanced de novo syn thesis of purine nucleotides [3].…”