title: 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.
mesh_terms: D000659:AMP Deaminase / Q000172:deficiency*; D000641:Ammonia / Q000097:blood; D004359:Drug Therapy, Combination; D006801:Humans; D019271:Hypoxanthine; D007042:Hypoxanthines / Q000097:blood; D007288:Inosine / Q000097:blood; D007773:Lactates / Q000097:blood; D019344:Lactic Acid; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000201:enzymology*; D009468:Neuromuscular Diseases / Q000188:drug therapy* / Q000201:enzymology; D009709:Nucleotide Deaminases / Q000172:deficiency*; D005082:Physical Exertion; D012266:Ribose / Q000627:therapeutic use*; D014993:Xylitol / Q000627:therapeutic use
chemical_list: D007042:Hypoxanthines; D007773:Lactates; D019271:Hypoxanthine; D019344:Lactic Acid; D007288:Inosine; D012266:Ribose; D000641:Ammonia; D009709:Nucleotide Deaminases; D000659:AMP Deaminase; D014993:Xylitol