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A Metabolic Basis for Treatment of Type I Glycogen Storage Disease

  • Harry L. Greene
Part of the Hepatology book series (H, volume 5)

Abstract

Most diseases associated with excess hepatic glycogen can be traced to deficient activity of one of the enzymes involved in synthesis or degradation of glycogen (1–3). Exceptions to this are deficient activity of the glycolytic enzyme, phosphofructokinase in muscle (4), and deficient activity of the hepatic gluconeogenic enzyme glucose-6-phosphatase (G-6-Pase). The fact that glycogen synthesis and degradation can proceed unimpaired, leads to a number of clinical and chemical features unique to patients with G-6-Pase deficiency or type I glycogen storage (GSD-I).

Keywords

Uric Acid Glycogen Storage Disease Glycogen Storage Disease Type Portacaval Shunt Purine Synthesis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    HUGG: Glycogen storage diseases.Birth Defects XII:145,1976.Google Scholar
  2. 2.
    SENIORB: The glycogenoses.Clin Perinatol 3:79, 1976.PubMedGoogle Scholar
  3. 3.
    HOWELLRR: The Glycogen Storage Diseases. InThe Metabolic Basis of Inherited Disease, Stanbury JB, Wyngaarden JB, Fredrickson DS (eds) (4th Edition). McGraw-Hill Co., New York, 1977. p. 137.Google Scholar
  4. 4.
    TARUIS,OKUNOG,IKUKAY,TANAKAT,SUDAM,NISHIKAWAJ: Phosphofructokinase deficiency in skeletal muscle: a new type of glycogenosis.Biochem Biophys Res Commun 19: 517, 1965.PubMedCrossRefGoogle Scholar
  5. 5.
    COLEMANJE: Metabolic interrelationships between carbohydrates, lipids and proteins. InDiseases of Metabolism, Bondy PK, Rosenberg LE (eds). (7th Edition) WB Saundèrs Co., Philadelphia, 1974. p. 107.Google Scholar
  6. 6.
    SADEGHI-NEJADA,PRESENTEE,BINKIEWIEZA,SENIORB: Studies in type I glycogenosis of the liver. The genesis and deposition of lactate.J Pediatr 85: 49, 1974.PubMedGoogle Scholar
  7. 7.
    JAKOVCICS,KHACHADURIANAK,HSIA DYY: The hyperlipidemia in glycogen storage disease.J Lab Clin Med 68: 769, 1966.PubMedGoogle Scholar
  8. 8.
    HOWELLRR,ASHTONDM,WYNGAARDENJB: Glucose-6-phosphatase deficiency glycogen storage disease. Studies on the interrelationships of carbohydrate, lipid and purine abnormalities.Pediatrics 29: 553, 1962.PubMedGoogle Scholar
  9. 9.
    OCKERMANPA: Glucose, glycerol and free fatty acids in glycogen storage disease type I: blood levels in the fasting and non-fasting state: effects of glucose and adrenalin administration.Clin Chim Acta 12:370, 1965.PubMedCrossRefGoogle Scholar
  10. 10.
    FORGETPP,FERNANDESJ,BEGEMANNPH: Triglyceride clearing in glycogen storage disease.Pediatr Res 8: 114, 1974.PubMedCrossRefGoogle Scholar
  11. 11.
    HULSMANNWD,EIJENBOOMWHM,KOSTERJF,FERNANDESJ: Glucose-6-phosphatase deficiency and hyperlipaemia.Clin Chim Acta 30: 775, 1970.PubMedCrossRefGoogle Scholar
  12. 12.
    FINERN,STRAUSSJ,CONNELGN: Hyperuricemia in glycogen storage disease type I.Am J Dis Child 112: 572, 1966.PubMedGoogle Scholar
  13. 13.
    HOWELLRR: The interrelationship of glycogen storage disease and gout.Arthritis Rheum 8: 780, 1965.PubMedCrossRefGoogle Scholar
  14. 14.
    GREENEHL,SLONIMAE,O’NEILLJA,Jr,BURRIM: Continuous nocturnal intragastric feeding for management of type I glycogen storage disease.N Engl J Med 294: 423, 1976.PubMedCrossRefGoogle Scholar
  15. 15.
    ALEPAFP,HOWELLRR,KLINEBERGJR,SEEGMILLERJE: Relationships between glycogen storage disease and tophaceous gout.Am J Med 42: 58, 1967.PubMedCrossRefGoogle Scholar
  16. 16.
    JAKOVCICS,SORENSENLB: Studies of uric acid metabolism in glycogen storage disease associated with gouty arthritis.Arthritis Rheum 10:129, 1967.PubMedCrossRefGoogle Scholar
  17. 17.
    HENDERSONJF,KHOOKY: Synthesis of 5-phosphoribosyl-l-pyro-phosphate from glucose in Ehrlich ascites tumor cells in vitro.J Biol Chem 240: 2349, 1965.PubMedGoogle Scholar
  18. 18.
    GREENEHL,SEEGMILLERJE: Elevated erythrocyte phosphoribosyl-pyrophosphate in x-linked uric aciduria: importance of PRPP concentration in regulation of human purine biosynthesis.J Clin Invest 48: 32a, 1969.Google Scholar
  19. 19.
    RAIVIOKO,SEEGMILLERJE: Role of glutamine in purine synthesis and in guanine nucleotide formation in normal fibroblasts and in fibroblasts deficient in hypoxanthine phospho-ribosyltransferase activity.Biochim Biophys Acta 299: 282, 1973.Google Scholar
  20. 20.
    HOWELLRR: Hyperuricemia in childhood.Fed Proc 27:1078, 1968.PubMedGoogle Scholar
  21. 21.
    BROSHS,BOERP,JUPFERJ,DEVRIESA,SPERLINGO: De novo synthesis of purine nucleotides in human peripheral blood leukocytes: excessive activity of the pathway in hypoxanthine-guanine phosphoribosyl-transferase deficiency.J Clin Invest 58: 289, 1976.PubMedCrossRefGoogle Scholar
  22. 22.
    HOLMESEW,MCDONALDJA,MCCORDJM,WYNGAARDENJB,KELLYWN: Human glutamine phosphoribosyl-purophosphate amidotransferase: kinetic and regulatory properties.J Biol Chem 248: 143, 1973.Google Scholar
  23. 23.
    BODEJC,ZELDERO,RUMPELTHJ,WITTKAMPU: Depletion of liver adenosine phosphates and metabolic effects of intravenous infusion of fructose or sorbitol in man and in the rat.Eur J Clin Invest 3: 436, 1973.PubMedCrossRefGoogle Scholar
  24. 24.
    WOODSHF,EGGLESTONLV,KREBSHA: The cause of hepatic accumulation of fructose-1-phosphate on fructose loading.Biochem J 119: 501, 1970.PubMedGoogle Scholar
  25. 25.
    CRIGLERJR, Jr,FOLKMANJ: Glycogen storage disease: new approaches to therapy. InHepatotrophic Factors, Porter R, Whelan J (eds), Ciba Foundation Symposium, Amsterdam, 1978. p. 331.Google Scholar
  26. 26.
    ROETF,KOGUTMD: The pathogenesis of hyperuricemia in glycogen storage disease type I.Pediatr Res 11: 664, 1977.PubMedCrossRefGoogle Scholar
  27. 27.
    GREENEHL,WILSONFA,HEFFERANP,TERRYAB,MORANJR,SLONIMAE,CLAUSTH,BURRIM: ATP depletion, a possible role in the pathogenesis of hyperuricemia in glycogen storage disease type I.J Clin Invest 62: 321, 1978.PubMedCrossRefGoogle Scholar
  28. 28.
    CORBYDG,PUTNAMCW,GREENEHL: Impaired platelet function in glucose-6-phosphate deficiency.J Pediatr 85: 71, 1974.PubMedCrossRefGoogle Scholar
  29. 29.
    COOPERRA: Abnormalities of cell-membrane fluidity in the pathogenesis of disease.N Eng J Med 297: 371, 1977.CrossRefGoogle Scholar
  30. 30.
    HOWELLRR,STEVENSONRE,BEN-MENACHEMY,PHYLIKYRL,BERRYDH: Hepatic adenomata with type I glycogen-storage disease.J Am Med Assoc 236:1481, 1976.CrossRefGoogle Scholar
  31. 30a.
    ROETF,KOGUTMD,BUCKINGHAMBA,MILLERJH,GATESGF,LANDINGBH: Hepatic tumors in glycogen-storage disease type I.Pediatr Res 13:931, 1979.Google Scholar
  32. 31.
    SIDBURYJB: The genetics of the glycogen storage disease.Prog Med Genet 4:32, 1965.PubMedGoogle Scholar
  33. 32.
    FARBERM,KNUPPELRA,BINKIEWICAA,KENNISONRD: Pregnancy and von Gierke’s disease.Obstet Gynecol 47: 226, 1976.PubMedGoogle Scholar
  34. 33.
    FOLKMANJ,PHILIPPARTA,TZEWJ,CRIGLERJ,Jr: Portacaval shunt for glycogen storage disease: value of prolonged intravenous hyperalimentation before surgery.Surgery72: 306, 1972.PubMedGoogle Scholar
  35. 34.
    BURRIM,O’NEILLJA,KARZONDT,HOWARDLJ,GREENEHL: Comparison of the effects of total parenteral nutrition continuous intragastric feeding and portacaval shunt on a patient with type I glycogen storage disease.J Pediatr 85: 792, 1974.PubMedCrossRefGoogle Scholar
  36. 35.
    ROETF,KOGUTMD: Chronic effects of oral glucose alimentation and portacaval shunt in patients with glycogen storage disease type I.Pediatr Res 10: 414, 1976 (abs).Google Scholar
  37. 36.
    BAKERL,MILLSJL: Long-term treatment of glycogen storage disease type I: clinical improvement but persistent abnormalities of lactate and triglyceride concentration.Pediatr Res 12: 502, 1978 (abs).CrossRefGoogle Scholar
  38. 37.
    KOULISCHERN,PICKERINGDE: Glycogen-storage disease: a study on the effect of sodium 1-thyroxine and glucagon.Am J Dis Child 91: 103, 1956.Google Scholar
  39. 38.
    LOWECU,SOKALJE,DORAYBH,SARCIONEEJ: Biochemical studies and specific therapy in hepatic glycogen storage disease.J Clin Invest 38: 1021, 1959 (abs).Google Scholar
  40. 39.
    LOWECU,MOSCOVICHLL: The paradoxical effects of alcohol on carbohydrate metabolism in four patients with liver glycogen disease.Pediatrics 35: 1005, 1965.PubMedGoogle Scholar
  41. 40.
    RENNERTOM,MUKHOPADHYAYD: Diazoxide in von Gierke’s disease.Arch Dis Child 43: 358, 1968.PubMedCrossRefGoogle Scholar
  42. 41.
    GREENEHL,HERMANRH,STIFELFB: Glycogen storage disease due to glucose-6-phosphatase deficiency: treatment with clofibrate.Pediatr Res 6: 398, 1972 (abs).Google Scholar
  43. 42.
    SEXTONAW,MARCHIOROTL,WADPELLWR,STARZLTE: Liver deglyco-genation after portacaval transposition.Surg Forum 15: 120, 1964.PubMedGoogle Scholar
  44. 43.
    STARZLTE,MARCHIOROTL,SEXTONAW,ILLINGWORTHB,WADDELLWR,FARISTD,HERMANNRJ: The effect of portacaval transposition on carbohydrate metabolism: experimental and clinical observations.Surgery 57: 687, 1965.PubMedGoogle Scholar
  45. 44.
    RIDDELLRG,DAVIESRP,CLARKAD: Portacaval transposition in the treatment of glycogen storage disease.Lancet 2:1205, 1966.Google Scholar
  46. 45.
    HONGR,SCHUBERTWK: Menghini needle biopsy of the liver.Am J Dis Child 100: 42, 1960.PubMedGoogle Scholar
  47. 46.
    GREENEHL,SLONIMAE,BURRIM: Type I glycogen storage disease: advances in treatment. InAdvances in Pediatrics, Barness L (ed) vol. 26: 63–92, 1979.Google Scholar

Copyright information

© Plenum Press, New York 1983

Authors and Affiliations

  • Harry L. Greene
    • 1
  1. 1.Department of PediatricsVanderbilt Medical CenterNashvilleUSA

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