Diabetes Research and Clinical Practice
Volume 65, Issue 2 , Pages 175-182 , August 2004

Intermittent and recurrent hepatomegaly due to glycogen storage in a patient with type 1 diabetes: Genetic analysis of the liver glycogen phosphorylase gene (PYGL)

  • Masako Tomihira

      Affiliations

    • Division of Endocrinology and Metabolism, St. Mary’s Hospital, 422 Tsubukuhonmachi, Kurume, Fukuoka, Japan
    • ,
  • Eiji Kawasaki

      Affiliations

    • Unit of Metabolism/Diabetes and Clinical Nutrition, Nagasaki University School of Medicine, Nagasaki, Japan
    • ,
  • Hiromu Nakajima

      Affiliations

    • Department of Clinical Laboratory, Osaka Medical Center for Cancer and Cardiovascular Diseases (OMCC), Osaka, Japan
    • ,
  • Yutaka Imamura

      Affiliations

    • Division of Hematology, St. Mary’s Hospital, 422 Tsubukuhonmachi, Kurume, Fukuoka, Japan
    • ,
  • Yuichi Sato

      Affiliations

    • Division of Endocrinology and Metabolism, St. Mary’s Hospital, 422 Tsubukuhonmachi, Kurume, Fukuoka, Japan
    • ,
  • Michio Sata

      Affiliations

    • Second Department of Internal Medicine, Kurume University of School of Medicine, Fukuoka, Japan
    • ,
  • Masayoshi Kage

      Affiliations

    • First Department of Pathology, Kurume University of School of Medicine, Fukuoka, Japan
    • ,
  • Hideo Sugie

      Affiliations

    • Department of Pediatric Neurology, Hamamatsu City Medical Center for Developmental Medicine, Shizuoka, Japan
    • ,
  • Kiyohide Nunoi

      Affiliations

    • Division of Endocrinology and Metabolism, St. Mary’s Hospital, 422 Tsubukuhonmachi, Kurume, Fukuoka, Japan
    • Corresponding Author InformationCorresponding author. Tel.: +81-942-35-3322; fax: +81-942-34-3575.

,Revised 12 February 2003 ,Accepted 12 December 2003.

References 

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  4. Brian EW, Schecher AJ, Persons EL. Unusual glycogen storage in a case of diabetes Mellitus. Arch. Intern. Med. 1937;59:685–690
  5. Marble A, White P, Nogan IK, Smith RM. Enlargement of the liver in diabetic children. I. Its incidence, etiology and nature. Arch. Intern. Med. 1938;62:740–750
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  7. Goodman JI. Hepatomegaly and diabetes mellitus. Ann. Intern. Med. 1953;39:1077–1087
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  9. Manderson WG, McKiddie MT, Manners DJ, Stark JR. Liver glycogen accumulation in unstable diabetes. Diabetes. 1968;17:13–16
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  11. Ortmeyer HK, Bodkin NL, Hansen BC. Insulin regulate liver glycogen synthase and phosphorylase activity reciprocally in ruthus monkeys. Am. J. Physiol. 1997;272:133–138
  12. Peterson KF, Laurent D, Rothma DL, Cline GW, Shulman GI. Mechanism by which glucose and insulin inhibit net hepatic glycogenolysis in humans. J. Clin. Invest. 1998;101:1203–1209
  13. Chatila R, West B. Hepatomegaly and abnormal liver tests due to glycogenesis in adults with diabetes. Medicine (Baltimore). 1996;75(6):327–333
  14. Tomihira M, Uchizono Y, Sato Y, et al.  Recurrenrt hepatomegaly due to glycogen storage after diabetic ketoasidosis in a case of type 1 diabetes mellitus. J. Jpn. Diabetes Soc. 2000;43(10):879–885 In Japanese
  15. Y.T. Chen, A. Burchell, Glycogen storage disease, in: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), The Metabolic and Molecular Basis of Inherited Disease, vol 1, McGraw-Hill, New York, NY, 1995, pp. 935–966.
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  17. DiMauro S, Hartwing GB, Hays A, et al.  Debrancher deficiency, neuromuscular disorder in 5 adults. Ann. Neurol. 1979;5:422–436
  18. Lederer B, van de Werve G, de Barsy T, Hers HG. The autosomal form of phosphorylase kinase deficiency in man reduced activity of the muscle enzyme. Biochem. Biophys. Res. Commun. 1980;92:169–174
  19. Newgard CB, Nakano K, Hwang PK, Fletterick RJ. Sequence analysis of the c DNA encoding human liver glycogen phosphrylase reveals tissue-specific codon usage. Proc. Natl. Acd. Sci. U.S.A. 1986;83:8132–8136
  20. J.D. Terwilliger, J. Ott, Linkage Disequilibrium Between Alleles at Marker Loci, Johns Hopkins University Press, Baltomore, 1994.
  21. Burwinkel B, Bakker HD, Herschkoviz E, Moses SW, Shin YS, Killian MW. Mutation in liver glycogen phosphorylase gene (PYGL) underlying Glycogenosis type IV (Hers disease). Am. J. Hum. Genet. 1998;62:785–791
  22. Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker LG. Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type IV. Hum. Mol. Genet. 1998;7(5):865–870
  23. Hudson JW, Golding GB, Crerar MM. Evolution of allosteric control in glycogen phosphorylase. J. Mol. Biol. 1993;234:700–721
  24. Lederer B, Hoof van F, Berghe van den G, Hers HG. Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patirnts with type VI glycogen storage dosease. Biochem. J. 1975;147:23–35
  25. Marie I, Baussan C, Moatti N, Mathieu M, Lemonnier A. Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience. Clin. Biochem. 1991;24:169–178
  26. Dahan N, Baussan C, Moatti N, Lemonnier A. Use of platelets, mononuclear and polymorphonuclear cells in the diagnosis of glycogen storage disease type IV. J. Inher. Metab. Dis. 1988;11:253–260

PII: S0168-8227(03)00335-8

doi: 10.1016/j.diabres.2003.12.004

Diabetes Research and Clinical Practice
Volume 65, Issue 2 , Pages 175-182 , August 2004

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