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.

• Authors: N Zöllner, S Reiter, M Gross, D Pongratz, C D Reimers, K Gerbitz, I Paetzke, T Deufel, G Hübner
• Journal: Klinische Wochenschrift (Klin Wochenschr) Vol. 64 Issue 24 Pg. 1281-90 (Dec 15 1986) ISSN: 0023-2173 [Print] Germany
• PMID: 3102830 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hypoxanthines
• Lactates
• Hypoxanthine
• Lactic Acid
• Inosine
• Ribose
• Ammonia
• Nucleotide Deaminases
• AMP Deaminase
• Xylitol

Topics

• AMP Deaminase (deficiency)
• Ammonia (blood)
• Drug Therapy, Combination
• Humans
• Hypoxanthine
• Hypoxanthines (blood)
• Inosine (blood)
• Lactates (blood)
• Lactic Acid
• Male
• Middle Aged
• Muscles (enzymology)
• Neuromuscular Diseases (drug therapy, enzymology)
• Nucleotide Deaminases (deficiency)
• Physical Exertion
• Ribose (therapeutic use)
• Xylitol (therapeutic use)