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Genetics of Glycogen-Storage Disease Type I Differential Diagnoses

  • Author: Karl S Roth, MD; Chief Editor: Maria Descartes, MD  more...
 
Updated: Aug 10, 2015
 
 
 
Contributor Information and Disclosures
Author

Karl S Roth, MD Retired Professor and Chair, Department of Pediatrics, Creighton University School of Medicine

Karl S Roth, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Nutrition, American Pediatric Society, American Society for Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, Society for Pediatric Research, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

Edward Kaye, MD Vice President of Clinical Research, Genzyme Corporation

Edward Kaye, MD is a member of the following medical societies: American Academy of Neurology, Society for Inherited Metabolic Disorders, American Society of Gene and Cell Therapy, American Society of Human Genetics, Child Neurology Society

Disclosure: Received salary from Genzyme Corporation for management position.

References
  1. Cori GT, Cori CF. Glucose-6-phosphatase of the liver in glycogen storage disease. J Biol Chem. 1952 Dec. 199(2):661-7. [Medline].

  2. Narisawa K, Igarashi Y, Otomo H, Tada K. A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system. Biochem Biophys Res Commun. 1978 Aug 29. 83(4):1360-4. [Medline].

  3. Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, et al. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014 Nov. 16 (11):e1. [Medline]. [Full Text].

  4. Nguyen AD, Pan CJ, Weinstein DA, Chou JY. Increased scavenger receptor class B type I-mediated cellular cholesterol efflux and antioxidant capacity in the sera of glycogen storage disease type Ia patients. Mol Genet Metab. 2006 Nov. 89(3):233-8. [Medline].

  5. Melis D, Cozzolino M, Minopoli G, et al. Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian study. J Pediatr. April 2015. 166:1079-1082. [Medline].

  6. Bernier AV, Correia CE, Haller MJ, et al. Vascular dysfunction in glycogen storage disease type I. J Pediatr. 2009 Apr. 154(4):588-91. [Medline].

  7. Cabrera-Abreu J, Crabtree NJ, Elias E, et al. Bone mineral density and markers of bone turnover in patients with glycogen storage disease types I, III and IX. J Inherit Metab Dis. 2004. 27(1):1-9. [Medline].

  8. Minarich LA, Kirpich A, Fiske LM, Weinstein DA. Bone mineral density in glycogen storage disease type Ia and Ib. Genet Med. 2012 Apr 5. [Medline].

  9. Calderaro J, Labrune P, Morcrette G, et al. Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. J Hepatol. 2013 Feb. 58(2):350-7. [Medline].

  10. Correia CE, Bhattacharya K, Lee PJ, et al. Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib. Am J Clin Nutr. 2008 Nov. 88(5):1272-6. [Medline].

  11. Koeberl DD. In search of proof-of-concept: gene therapy for glycogen storage disease type Ia. J Inherit Metab Dis. 2012 Feb 7. [Medline].

  12. Das AM, Lücke T, Meyer U, Hartmann H, Illsinger S. Glycogen storage disease type 1: impact of medium-chain triglycerides on metabolic control and growth. Ann Nutr Metab. 2010. 56(3):225-32. [Medline].

  13. Melis D, Pivonello R, Cozzolino M, et al. Impaired bone metabolism in glycogen storage disease type I is associated with poor metabolic control in type Ia and with granulocyte-colony stimulating factor therapy in type Ib. Horm Res Paediatr. January 2014. 81:55-62. [Medline].

  14. Ambruso DR, McCabe ER, Anderson D, et al. Infectious and bleeding complications in patients with glycogenosis Ib. Am J Dis Child. 1985 Jul. 139(7):691-7. [Medline].

  15. Baker L, Dahlem S, Goldfarb S, et al. Hyperfiltration and renal disease in glycogen storage disease, type I. Kidney Int. 1989 Jun. 35(6):1345-50. [Medline].

  16. Bashan N, Hagai Y, Potashnik R, Moses SW. Impaired carbohydrate metabolism of polymorphonuclear leukocytes in glycogen storage disease Ib. J Clin Invest. 1988 May. 81(5):1317-22. [Medline].

  17. Bianchi L. Glycogen storage disease I and hepatocellular tumours. Eur J Pediatr. 1993. 152 Suppl 1:S63-70. [Medline].

  18. Bodamer OA, Feillet F, Lane RE, et al. Utilization of cornstarch in glycogen storage disease type Ia. Eur J Gastroenterol Hepatol. 2002 Nov. 14(11):1251-6. [Medline].

  19. Chen YT, Coleman RA, Scheinman JI, et al. Renal disease in type I glycogen storage disease. N Engl J Med. 1988 Jan 7. 318(1):7-11. [Medline].

  20. Chen YT, Cornblath M, Sidbury JB. Cornstarch therapy in type I glycogen-storage disease. N Engl J Med. 1984 Jan 19. 310(3):171-5. [Medline].

  21. Chen YT, Scheinman JI, Park HK, et al. Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapy. N Engl J Med. 1990 Aug 30. 323(9):590-3. [Medline].

  22. Chou JY, Mansfield BC. Gene therapy for type I glycogen storage diseases. Curr Gene Ther. 2007 Apr. 7(2):79-88. [Medline].

  23. Greene HL, Slonim AE, O'Neill JA Jr, Burr IM. Continuous nocturnal intragastric feeding for management of type 1 glycogen-storage disease. N Engl J Med. 1976 Feb 19. 294(8):423-5. [Medline].

  24. Heyne K, Henke-Wolter J. Glycogen storage disease Ib: modification of alpha 1-antitrypsin glycoprotein microheterogeneity. Eur J Pediatr. 1989 Jan. 148(4):341-3. [Medline].

  25. Koeberl DD, Kishnani PS, Chen YT. Glycogen storage disease types I and II: treatment updates. J Inherit Metab Dis. 2007 Apr. 30(2):159-64. [Medline].

  26. Leuzzi R, Banhegyi G, Kardon T, et al. Inhibition of microsomal glucose-6-phosphate transport in human neutrophils results in apoptosis: a potential explanation for neutrophil dysfunction in glycogen storage disease type 1b. Blood. 2003 Mar 15. 101(6):2381-7. [Medline].

  27. Martens DH, Rake JP, Schwarz M, Ullrich K, Weinstein DA, Merkel M. Pregnancies in glycogen storage disease type Ia. Am J Obstet Gynecol. 2008 Jun. 198(6):646.e1-7. [Medline].

  28. Martin AP, Bartels M, Schreiber S, Buehrdel P, Hauss J, Fangmann J. Successful staged kidney and liver transplantation for glycogen storage disease type Ib: A case report. Transplant Proc. 2006 Dec. 38(10):3615-9. [Medline].

  29. Melis D, Parenti G, Della Casa R, et al. Brain damage in glycogen storage disease type I. J Pediatr. 2004 May. 144(5):637-42. [Medline].

  30. Melis D, Parenti G, Della Casa R, et al. Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs. Acta Paediatr. 2003 Dec. 92(12):1415-21. [Medline].

  31. Mundy HR, Hindmarsh PC, Matthews DR, et al. The regulation of growth in glycogen storage disease type 1. Clin Endocrinol (Oxf). 2003 Mar. 58(3):332-9. [Medline].

  32. Rake JP, Visser G, Huismans D, et al. Bone mineral density in children, adolescents and adults with glycogen storage disease type Ia: a cross-sectional and longitudinal study. J Inherit Metab Dis. 2003. 26(4):371-84. [Medline].

  33. Roe TF, Coates TD, Thomas DW, et al. Brief report: treatment of chronic inflammatory bowel disease in glycogen storage disease type Ib with colony-stimulating factors. N Engl J Med. 1992 Jun 18. 326(25):1666-9. [Medline].

  34. Roe TF, Thomas DW, Gilsanz V, et al. Inflammatory bowel disease in glycogen storage disease type Ib. J Pediatr. 1986 Jul. 109(1):55-9. [Medline].

  35. Roy CN, Weinstein DA, Andrews NC. 2002 E. Mead Johnson Award for Research in Pediatrics Lecture: the molecular biology of the anemia of chronic disease: a hypothesis. Pediatr Res. 2003 Mar. 53(3):507-12. [Medline]. [Full Text].

  36. Talente GM, Coleman RA, Alter C, et al. Glycogen storage disease in adults. Ann Intern Med. 1994 Feb 1. 120(3):218-26. [Medline]. [Full Text].

  37. Veiga-da-Cunha M, Gerin I, Van Schaftingen E. How many forms of glycogen storage disease type I?. Eur J Pediatr. 2000 May. 159(5):314-8. [Medline].

  38. Visser G, Rake JP, Labrune P, et al. Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1. Eur J Pediatr. 2002 Oct. 161 Suppl 1:S120-3. [Medline].

  39. Visser G, Rake JP, Labrune P, et al. Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1. Eur J Pediatr. 2002 Oct. 161 Suppl 1:S83-7. [Medline].

  40. Wolf B, Freehauf CL, Thomas JA, et al. Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia. J Inherit Metab Dis. 2003. 26(8):805-9. [Medline].

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Microsome is shown in relation to the substrate, glucose-6-phosphate, which has been released from cytosolic glycogen. This substrate is transferred across the microsomal membrane by the protein translocase, where by glucose-6-phosphatase acts on it to release free glucose and inorganic phosphate. Patients with glycogen-storage disease type Ia are genetically deficient in glucose-6-phosphate activity, while those affected with glycogen-storage disease type Ib lack translocase.
 
 
 
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