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.
Similar content being viewed by others
Abbreviations
- AMP, ADP, ATP:
-
adenosine-5′-monophosphate, diphosphate, -triphosphate
- GDP, GTP:
-
guanosine-5′-diphosphate, -triphosphate
- IMP:
-
inosine-5′-monophosphate
- MAD:
-
myoadenylate deaminase
- PRPP:
-
Phosphoribosylpyrophosphate
References
Aragon JJ, Tornheim K, Lowenstein JM (1980) On a possible role of IMP in the regulation of phosphorylase activity in skeletal muscle. FEBS Lett 117:K56-K64
Aragon JJ, Tornheim K, Goodman MN, Lowenstein JM (1981) Replenishment of citric acid cycle intermediates by the purine nucleotide cycle in rat skeletal muscle. Curr Top Cell Regul 18:131–149
Atkinson DE (1968) The energy charge of the adenylate pool as a regulatory parameter. Interaction with feedback modifiers. Biochemistry 7:4030–4034
Bass A, Brdiczka D, Eyer P, Hofer S, Pette D (1969) Metabolic differentiation of distinct muscle types at the level of enzymatic organization. Eur J Biochem 10:198–206
Conn HO (1962) Studies on the origin and significance of blood ammonia. I. Effect of various anticoagulants on the blood ammonia determination. Yale J Biol Med 35:171–184
Deufel T, Wieland OH (1983) Sensitive assay of carnitine palmitoyl transferase activity in tissue homogenates with a modified spectrophotometric method for enzymatic carnitine determination. Clin Chim Acta 135:247–251
DiMauro S, Miranda AF, Hays AP, Franck WA, Hoffman GS, Schoenfeldt RS, Singh N (1980) Myoadenylate deaminase deficiency. Muscle biopsy and muscle culture in a patient with gout. J Neurol Sci 47:191–202
Dimond EG (1955) Inhibitory effect of heparin upon adenylic deaminase. J Lab Clin Med 46:807–808
Fishbein WN, Armbrustmacher VW, Griffin JL (1978) Myoadenylate deaminase deficiency: a new disease of muscle. Science 200:545–548
Fishbein WN, Griffin JL, Armbrustmacher VW (1980) Stain for skeletal muscle adenylate deaminase. An effective tetrazolium stain for frozen biopsy specimens. Arch Pathol Lab Med 104:462–466
Fishbein WN (1984) Human myoadenylate deaminase deficiency. Adv Exp Med Biol 165A:77–84
Fishbein WN (1985) Myoadenylate deaminase deficiency: inherited and acquired forms. Biochem Med 33:158–169
Fishbein WN (1986) Myoadenylate deaminase deficiency. In: Engel AG, Banker BQ (eds) Myology. McGraw-Hill, New York, pp 1745–1762
Ginsburg J, Boucher B, Beaconsfield P (1970) Hormonal changes during ribose-induced hypoglycemia. Diabetes 19:23–27
Goebel HH, Bardosi A, Conrad B, Kuhlendahl HD, DiMauro S, Rumpf KW (1986) Myoadenylate deaminase deficiency. Klin Wochenschr 64:342–347
Griebsch A, Zöllner N (1976) Renal uric acid excretion evaluated over periods of one day and one month using balance techniques in normal and hyperuricemic subjects. In: Silbernagl S, Lang F, Greger R (eds) Amino acid transport and uric acid transport. Thieme, Stuttgart, pp 236–243
Gross M, Reiter S, Zöllner N (1987) The metabolism of D-ribose administered continuously to healthy persons and to subjects with myoadenylate deaminase deficiency. Klin Wochenschr 65 (in print)
Henry RJ (1968) Clinical chemistry — principles and technics. Harper and Row, New York, pp 664–666
Heuckenkamp PU, Zöllner N (1972) Xylitbilanz während mehrstündiger Infusionen mit konstanten Zufuhrraten bei gesunden Menschen. Klin Wochenschr 50:1063–1065
Joosten E, van Bennekom C, Oerlemans F, De Bruyn C, Oei T, Trijbels J (1984) Myoadenylate deaminase deficiency: an enzyme defect in search of a disease. Adv Exp Med Biol 165A:85–89
Kelemen J, Rice DR, Bradley WG, Munsat TL, DiMauro S, Hogan EL (1982) Familial myoadenylate deaminase deficiency and exertional myalgia. Neurology 32:857–863
Lally EV, Friedman JH, Kaplan SR (1985) Progressive myalgias and polyarthralgias in a patient with myoadenylate deaminase deficiency. Arthritis Rheum 28:1298–1302
Lecky BRF (1983) Failure of D-ribose in myoadenylate deaminase deficiency. Lancet i:193
Lilienthal JL, Zierler KL, Folk BP, Buka R, Riley MJ (1950) A reference base and system for analysis of muscle constituents. J Biol Chem 182:501–508
Löffler W, Gröbner W, Wolfram G, Zöllner N (1983) Die endogene Harnsäuresynthese des Menschen. Verh Dtsch Ges Inn Med 89:678–679
Lowenstein JM (1972) Ammonia production in muscle and other tissues: the purine nucleotide cycle. Physiol Rev 52:382–414
Marini M, Zunica G, Franceschi C (1985) Inhibition of cell proliferation by D-ribose and deoxy-D-ribose. Proc Soc Exp Biol Med 180:246–257
Mondzac A, Ehrlich GE, Seegmiller JE (1965) An enzymatic determination of ammonia in biological fluids. J Lab Clin Med 66:526–531
Munsat TL (1970) A standardized forearm ischemic exercise test. Neurology 20:1171–1178
Patten BM (1982) Beneficial effect of D-ribose in patient with myoadenylate deaminase deficiency. Lancet i:1071
Patterson VH, Kaiser KK, Brooke MH (1983) Exercising muscle does not produce hypoxanthine in adenylate deaminase deficiency. Neurology 33:784–786
Pizzichini M, Marcolongo R, Marinello E (1980) Ribose tolerance in gouty patients. Adv Exp Med Biol 122A:81–86
Pongratz D (1976) Differentialdiagnose der Erkrankungen der Skelettmuskulatur anhand von Muskelbiopsien. Thieme, Stuttgart
Pongratz D (1986) Myopathie bei AMP-Deaminase-Mangel. Klin Wochenschr 64 (suppl V):96–97
Reiter S, Simmonds HA, Webster DR, Watson AR (1983) On the metabolism of allopurinol. Formation of allopurinol-1-riboside in purine nucleoside phosphorylase deficiency. Biochem Pharmac 32:2167–2174
Sabina RL, Swain JL, Patten BM, Ashizawa T, O'Brien WE, Holmes EW (1980) Disruption of the purine nucleotide cycle. A potential explanation for muscle dysfunction in myoadenylate deaminase deficiency. J Clin Invest 66:1419–1423
Sabina RL, Swain JL, Olanow CW, Bradley WG, Fishbein WN, DiMauro S, Holmes EW (1984) Myoadenylate deaminase deficiency. Functional and metabolic abnormalities associated with disruption of the purine nucleotide cycle. J Clin Invest 73:720–730
Sahlin K, Palmskog G, Hultman E (1978) Adenine nucleotide and IMP contents of the quadriceps muscle in man after exercise. Pflügers Arch 374:193–198
Scholte HR, Busch HFM, Luyt-Houwen IEM (1981) Familial AMP deaminase deficiency with skeletal muscle type I atrophy and fatal cardiomyopathy. J Inher Metab Dis 4:169–170
Segal S, Foley J, Wyngaarden JB (1957) Hypoglycemic effect of D-ribose in man. Proc Soc Exp Biol Med 95:551–555
Segal S, Foley J (1958) The metabolism of D-ribose in man. J Clin Invest 37:719–735
Shumate JB, Katnik R, Ruiz M, Kaiser K, Frieden C, Brooke MH, Carroll JE (1979) Myoadenylate deaminase deficiency. Muscle and Nerve 2:213–216
Shumate JB, Kaiser KK, Carroll JE, Brooke MH (1980) Adenylate deaminase deficiency in a hypotonic infant. J Pediat 96:885–887
Sinkeler SPT, Daanen HAM, Wevers RA, Oei TL, Joosten EMG, Binkhorst RA (1985) The relation between blood lactate and ammonia in ischemic handgrip exercise. Muscle and Nerve 8:523–527
Sinkeler SPT, Joosten EMG, Wevers RA, Binkhorst RA, Oei TL (1985) Myoadenylate deaminase deficiency and McArdle's disease: plasma adenosine, inosine and hypoxanthine after ischemic forearm exercise. Pediat Res 19:776
Sinkeler S, Joosten E, Wevers R, Binkhorst R, Oei L (1986) Skeletal muscle adenosine, inosine and hypoxanthine release following ischaemic forearm exercise in myoadenylate deaminase deficiency and McArdle's disease. Adv Exp Med Biol 195 B:517–523
Sinkeler SPT, Joosten EMG, Wevers RA, Binkhorst RA, Oerlemans FT, van Bennekom CA, Coerwinkel MM, Oei TL (1986) Ischaemic exercise test in myoadenylate deaminase deficiency and McArdle's disease: measurement of plasma adenosine, inosine and hypoxanthine. Clin Science 70:399–401
Söling HD, Bernhard G, Kuhn A, Lück HJ (1977) Inhibition of phosphofructokinase by fructose 1,6-diphosphatase in mammalian systems: protein-protein interaction or fructose 1,6-diphosphate trapping? Arch Biochem Biophys 182:563–572
Stankova J, Rola-Pleszczynski M (1984) α-Fucose inhibits human mixed-lymphocyte culture reactions and subsequent suppressor cell generation. Cell Immunol 83:83–91
Sutton JR, Toews CJ, Ward GR, Fox IH (1980) Purine metabolism during strenuous muscular exercise in man. Metabolism 29:254–260
Swain JL, Sabina RL, Holmes EW (1983) Myoadenylate deaminase deficiency. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease, 5th edn. McGraw-Hill, New York, pp 1184–1191
Swain JL, Hines JJ, Sabina RL, Harbury OL, Holmes EW (1984) Disruption of the purine nucleotide cycle by inhibition of adenylosuccinate lyase produces skeletal muscle dysfunction. J Clin Invest 74:1422–1427
Ulrich F (1983) Inhibition by specific monosaccharides of interleukin 2-induced thymocyte proliferation. Cell Immunol 80:241–256
Valen PA, Nakayama DA, Veum JA, Wortmann RL (1985) Myoadenylate deaminase deficiency: diagnosis by forearm ischemic exercise testing and plasma purine measurements. Pediat Res 19:779
Valen PA, Nakayama DA, Veum JA, Wortmann RL (1986) Myoadenylate deaminase deficiency: diagnosis by forearm ischemic exercise testing. Adv Exp Med Biol 195 B:525–528
Yoshino M, Murakami K (1985) AMP deaminase reaction as a control system of glycolysis in yeast. Role of ammonium ion in the interaction of phosphofructokinase and pyruvate kinase activity with the adenylate energy charge. J Biol Chem 260:4729–4732
Zimmer HG (1980) Restitution of myocardial adenine nucleotides: acceleration by administration of ribose. J Physiol (Paris) 76:769–775
Zöllner N, Gross M (1986) Myoadenylatdeaminase-Mangel. Erfolgreiche Therapie eines Falles mit Ribose bzw. Xylit. Klin Wochenschr 64 (Suppl V):34–35
Zunica G, Marini M, Brunelli MA, Chiricolo M, Franceschi C (1986) D-Ribose inhibits DNA repair synthesis in human lymphocytes. Biochem Biophys Res Commun 138:673–678
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
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
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01785710