Myogenic Hyperuricemia

New England Journal of Medicine

Volumn 317, Issue 2, 1987, Pages 75-80

  Mineo, Ikuo ^a   Kono, Norio ^a   Hara, Naoko ^a   Shimizu, Takao ^a   Yamada, Yuya ^a   Kawachi, Masanori ^a   Kiyokawa, Hiroaki ^a   Wang, Yan Lin ^a   Tarui, Seiichiro ^a  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; HYPOXANTHINE; INOSINE; URATE;

BICYCLE ERGOMETRY; CLINICAL ARTICLE; ETIOLOGY; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 3; GLYCOGEN STORAGE DISEASE TYPE 5; GLYCOGEN STORAGE DISEASE TYPE 7; HUMAN; HYPERURICEMIA; MUSCLE; MUSCLE DISEASE; PRIORITY JOURNAL;

ADULT; AMMONIA; EXERTION; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE III; GLYCOGEN STORAGE DISEASE TYPE V; GLYCOGEN STORAGE DISEASE TYPE VII; HUMANS; HYPOXANTHINE; HYPOXANTHINES; INOSINE; MALE; MIDDLE AGED; MUSCLES; REST; URIC ACID;

EID: 0023256148     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJM198707093170203     Document Type: Article

References (41)

1. Howell RR, Williams JC. The glycogen storage diseases. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, eds. The metabolic basis of inherited disease. 5th ed. New York: McGraw-Hill, 1983:141–66.
2. Wyngaarden JB, Kelley WN. Gout. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, eds. The metabolic basis of inherited disease. 5th ed. New York: McGraw-Hill, 1983:1043–114.
3. Roe TF, Kogut MD. The pathogenesis of hyperuricemia in glycogen storage disease, type I. Pediatr Res 1977; 11: 664–9.
4. Greene HL, Wilson FA, Heffernan P, et al. ATP depletion, a possible role in the pathogenesis of hyperuricemia in glycogen storage disease type I. J Clin Invest 1978; 62: 321–8.
5. Cohen JL, Vinik A, Faller J, Fox IH. Hyperuricemia in glycogen storage disease type I: contributions by hypoglycemia and hyperglucagonemia to increased urate production. J Clin Invest 1985; 75: 251–7.
6. Howell RR. The interrelationship of glycogen storage disease and gout. Arthritis Rheum 1965; 8: 780–5.
7. Fine RN, Strauss J, Donnell GN. Hyperuricemia in glycogen-storage disease type I. Am J Dis Child 1966; 112: 572–6.
8. Agamanolis DP, Askari AD, Di Mauro S, et al. Muscle phosphofructokinase deficiency: two cases with unusual polysaccharide accumulations and immunologically active enzyme protein. Muscle Nerve 1980; 3: 456–67.
9. Hays AP, Hallett M, Delfs J, et al. Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy. Neurology 1981; 31: 1077–86.
10. Zanella A, Mariani M, Meola G, Fagnani G, Sirchia G. Phosphofructokinase (PFK) deficiency due to a catalytically inactive mutant M-type subunit. Am J Hematol 1982; 12: 215–25.
11. Vora S, Davidson M, Seaman C, et al. Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency. J Clin Invest 1983; 72: 1995–2006.
12. Mineo I, Kono N, Shimizu T, et al. Excess purine degradation in exercising muscles of patients with glycogen storage disease types V and VII J Clin Invest 1985; 76: 556–60.
13. Kono N, Mineo I, Shimizu T, et al. Increased plasma uric acid after exercise in muscle phosphofructokinase deficiency. Neurology 1986; 36: 106–8.
14. Fogelfeld L, Sarova-Pinhas I, Meytes D. Glycogen storage disease type VII myopathy (Tarui) associated with hemolysis and gout. J Neurol 1985; 232: Suppl: 186. abstract.
15. Brunberg JB, McCormick WF, Schochet SS Jr. Type III glycogenosis: an adult with diffuse weakness and muscle wasting. Arch Neurol 1971; 25: 171–8.
16. Murase T, Ikeda H, Muro T, Nakao K, Sugita H. Myopathy associated with type III glycogenosis. J Neurol Sci 1973; 20: 287–95.
17. DiMauro S, Miranda AF, Khan S, Gitlin K, Friedman R. Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy. Science 1981; 212: 1277–9.
18. DiMauro S, Miranda AF, Hays AP, et al. Myoadenylate deaminase deficiency: muscle biopsy and muscle culture in a patient with gout. J Neurol Sci 1980; 47: 191–202.
19. Fishbein WN. Myoadenylate deaminase deficiency. In: Engel AG, Banker BQ, eds. Myology: basic and clinical. New York: McGraw-Hill, 1986: 1745–62.
20. Brooke MH, Patterson VH, Kaiser KK. Hypoxanthine and McArdle disease: a clue to metabolic stress in the working forearm. Muscle Nerve 1983; 6: 204–6.
21. Bertorini TE, Shively V, Taylor B, Palmieri GMA, Fox IH. ATP degradation products after ischemic exercise: hereditary lack of phosphorylase or carnitine palmityltransferase. Neurology 1985; 35: 1355–7.
22. Sabina RL, Swain JL, Olanow CW, et al. Myoadenylate deaminase deficiency: functional and metabolic abnormalities associated with disruption of the purine nucleotide cycle. J Clin Invest 1984; 73: 720–30.
23. Sutton JR, Toews CJ, Ward GR, Fox IH. Purine metabolism during strenuous muscular exercise in man. Metabolism 1980; 29: 254–60.
24. DiMauro S, Hartwig GB, Hays A, et al. Debrancher deficiency: neuromuscular disorder in 5 adults. Ann Neurol 1979; 5: 422–36.
25. Tabata T, Kikunami K, Matsushita Y, et al. Acute renal failure in McArdle's disease. Nephron 1986; 44: 371–4.
26. Tarui S, Okuno G, Ikura Y, Tanaka T, Suda M, Nishikawa M. Phosphofructokinase deficiency in skeletal muscles: a new type of glycogenosis. Biochem Biophys Res Commun 1965; 19: 517–23.
27. van Anken HC, Schiphorst ME. A kinetic determination of ammonia in plasma. Clin Chim Acta 1974; 56: 151–7.
28. Lorentz K, Berndt W. Enzymic determination of uric acid by a colorimetric method. Anal Biochem 1967; 18: 58–63.
29. Gutmann I, Wahlefeld AW. L-lactate determination with lactate dehydrogenase and NAD. In: Bergmeyer HU, ed. Methods of enzymatic analysis. New York: Academic Press, 1974:1464–8.
30. Technicon AutoAnalyzer R method file: method N 116. Tarrytown, N.Y.: Technicon Instruments Corporation, 1969.
31. Miranda AF, Mongini T, DiMauro S. Hereditary metabolic myopathies. Adv Exp Med Biol 1985; 182: 25–42.
32. Watts RWE, Watts JEM, Seegmiller JE. Xanthine oxidase activity in human tissues and its inhibition by allopurinol (4-hydroxypyrazolo[3,4-d]pyrimidine). J Lab Clin Med 1965; 66: 688–97.
33. Pritchard JB, O'Connor N, Oliver JM, Berlin RD. Uptake and supply of purine compounds by the liver. Am J Physiol 1975; 229: 967–72.
34. Beaudet AL. The glycogen storage diseases. In: Braunwald E, Isselbacher KJ, Petersdorf RG, Wilson JD, Martin JB, Fauci AS. eds. Harrison's principles of internal medicine. 11th ed. Vol. 2. New York: McGraw-Hill, 1987:1643–9.
35. Mineo I. Kono N, Shimizu T, Sumi S, Nonaka K, Tarui S. A comparative study on glucagon effect between McArdle disease and Tarui disease. Muscle Nerve 1984; 7: 552–9.
36. Tarui S, Mineo I, Shimizu T. Kono N. Phosphofructokinase deficiency and related disorders. In: Serratrice G, ed. Neuromuscular diseases. New York: Raven Press, 1984:71–7.
37. Kono N, Mineo I. Sumi S. et al. Metabolic basis of improved exercise tolerance: muscle phosphorylase deficiency after glucagon administration. Neurology 1984; 34: 1471–6.
38. Tarui S, Kono N, Kuwajima M, Ikura Y. Type VII glycogenosis (muscle and erythrocyte phosphofructokinase deficiency). Monogr Hum Genet 1978; 9: 42–7.
39. Tarui S, Kono N, Nasu T, Nishikawa M. Enzymatic basis for the coexistence of myopathy and hemolytic disease in inherited muscle phosphofructokinase deficiency. Biochem Biophys Res Commun 1969; 34: 77–83.
40. Rowland LP, DiMauro S, Layzer R. Phosphofructokinase deficiency. In: Engel AG, Banker BQ, eds. Myology: basic and clinical. New York: McGraw-Hill. 1986:1603–17.
41. Boss GR, Seegmiller JE. Hyperuricemia and gout: classification, complications, and management. N Engl J Med 1979; 300: 1459–68.