eMedicine Specialties > Endocrinology > Metabolic Disorders

Glycogen Storage Disease, Type Ib: Treatment & Medication

Author: Wayne E Anderson, DO, Assistant Professor of Internal Medicine/Neurology, Western University of Health Sciences; Assistant Professor of Family Medicine, Touro University College of Osteopathic Medicine; Consulting Staff in Pain Management, Department of Neurology, California Pacific Medical Center; Consulting Staff in Neurology, Department of Neurology, California Pacific Medical Center
Contributor Information and Disclosures

Updated: Nov 13, 2009

Treatment

Medical Care

  • In general, no specific treatment exists for glycogen storage diseases (GSDs).6
  • There is ongoing research into emerging gene therapy treatments.
  • In some cases, diet therapy is helpful. Meticulous adherence to a dietary regimen may reduce liver size, prevent hypoglycemia, allow for reduction in symptoms, and allow for growth and development.
  • Zingone and colleagues demonstrated the abolition of the murine clinical manifestations of Von Gierke disease with a recombinant adenoviral vector.7 These findings suggest that corrective gene therapy for GSDs may be possible in humans.
  • An encouraging study by Bijvoet and colleagues provides evidence of successful enzyme replacement for the mouse model of Pompe disease, which may lead to therapies for other enzyme deficiencies.8
  • Adequate administration of starch may avoid hypoglycemia.

Surgical Care

Liver transplantation may be indicated for patients with hepatic malignancy. It is not clear if transplantation prevents further complications, although a study by Matern and colleagues demonstrated post-transplantation correction of metabolic abnormalities.9

Consultations

Gastroenterology consult may be necessary to evaluate the presence or absence of inflammatory bowel disease.

Diet

  • A high-protein diet may provide increased muscle function in cases of weakness or exercise intolerance. A high-protein diet also may slow or arrest disease progression.
  • Patients must receive adequate glucose.

More on Glycogen Storage Disease, Type Ib

Overview: Glycogen Storage Disease, Type Ib
Differential Diagnoses & Workup: Glycogen Storage Disease, Type Ib
Treatment & Medication: Glycogen Storage Disease, Type Ib
Follow-up: Glycogen Storage Disease, Type Ib
Multimedia: Glycogen Storage Disease, Type Ib
References
Further Reading
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References

  1. Pan CJ, Chen SY, Lee S, et al. Structure-function study of the glucose-6-phosphate transporter, an eukaryotic antiporter deficient in glycogen storage disease type Ib. Mol Genet Metab. Jan 2009;96(1):32-7. [Medline].

  2. Melis D, Della Casa R, Parini R, et al. Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b. Eur J Pediatr. Sep 2009;168(9):1069-74. [Medline].

  3. Veiga-da-Cunha M, Gerin I, Chen YT. The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. Eur J Hum Genet. Sep 1999;7(6):717-23. [Medline].

  4. D'Eufemia P, Finocchiaro R, Celli M, Zambrano A, Tetti M, Ferrucci V. Absence of severe recurrent infections in glycogen storage disease type Ib with neutropenia and neutrophil dysfunction. J Inherit Metab Dis. Feb 2007;30(1):105. [Medline].

  5. Schwahn B, Rauch F, Wendel U, Schönau E. Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control. J Pediatr. Sep 2002;141(3):350-6. [Medline].

  6. Pierre G, Chakupurakal G, McKiernan P, et al. Bone marrow transplantation in glycogen storage disease type 1b. J Pediatr. Feb 2008;152(2):286-8. [Medline].

  7. Zingone A, Hiraiwa H, Pan CJ. Correction of glycogen storage disease type 1a in a mouse model by gene therapy. J Biol Chem. Jan 14 2000;275(2):828-32. [Medline].

  8. Bijvoet AG, Van Hirtum H, Vermey M. Pathological features of glycogen storage disease type II highlighted in the knockout mouse model. J Pathol. Nov 1999;189(3):416-24. [Medline].

  9. Matern D, Starzl TE, Arnaout W. Liver transplantation for glycogen storage disease types I, III, and IV. Eur J Pediatr. Dec 1999;158 Suppl 2:S43-8. [Medline].

  10. Pinsk M, Burzynski J, Yhap M, et al. Acute myelogenous leukemia and glycogen storage disease 1b. J Pediatr Hematol Oncol. Dec 2002;24(9):756-8. [Medline].

  11. Amato AA. Acid maltase deficiency and related myopathies. Neurol Clin. Feb 2000;18(1):151-65. [Medline].

  12. Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics. Jan 2000;105(1):e10. [Medline].

  13. Chen Y. Glycogen Storage Diseases. The Metabolic and Molecular Bases of Inherited Disease. 2001;1521-1551.

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

  15. Dieckgraefe BK, Korzenik JR, Husain A, Dieruf L. Association of glycogen storage disease 1b and Crohn disease: results of a North American survey. Eur J Pediatr. Oct 2002;161 Suppl 1:S88-92. [Medline].

  16. Fernandes J, Smit G. The Glycogen-Storage Diseases. Inborn Metabolic Diseases. 2000;87-102.

  17. Goldberg T, Slonim AE. Nutrition therapy for hepatic glycogen storage diseases. J Am Diet Assoc. Dec 1993;93(12):1423-30. [Medline].

  18. Hou DC, Kure S, Suzuki Y. Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene. Am J Med Genet. Sep 17 1999;86(3):253-7. [Medline].

  19. Kishnani PS, Boney A, Chen YT. Nutritional deficiencies in a patient with glycogen storage disease type Ib. J Inherit Metab Dis. Oct 1999;22(7):795-801. [Medline].

  20. Orho M, Bosshard NU, Buist NR. Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. J Clin Invest. Aug 1 1998;102(3):507-15. [Medline].

  21. Reitsma-Bierens WC. Renal complications in glycogen storage disease type I. Eur J Pediatr. 1993;152 Suppl 1:S60-2. [Medline].

  22. Salapata Y, Laskaris G, Drogari E. Oral manifestations in glycogen storage disease type 1b. J Oral Pathol Med. Mar 1995;24(3):136-9. [Medline].

  23. Saltik-Temizel IN, Koçak N, Ozen H, et al. Inflammatory bowel disease-like colitis in a young Turkish child with glycogen storage disease type 1b and elevated platelet count. Turk J Pediatr. Apr-Jun 2005;47(2):180-2. [Medline].

  24. Selby R, Starzl TE, Yunis E. Liver transplantation for type I and type IV glycogen storage disease. Eur J Pediatr. 1993;152 Suppl 1:S71-6. [Medline].

  25. Seydewitz HH, Matern D. Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations. Hum Mutat (Online). Jan 2000;15(1):115-6. [Medline].

  26. Smit GP, Fernandes J, Leonard JV. The long-term outcome of patients with glycogen storage diseases. J Inherit Metab Dis. 1990;13(4):411-8. [Medline].

  27. Spiegel R, Rakover-Tenenbaum Y, et al. Secondary diabetes mellitus: late complication of glycogen storage disease type 1b. J Pediatr Endocrinol Metab. Jun 2005;18(6):617-9. [Medline].

  28. Stevens AN, Iles RA, Morris PG. Detection of glycogen in a glycogen storage disease by 13C nuclear magnetic resonance. FEBS Lett. Dec 27 1982;150(2):489-93. [Medline].

  29. Wolfsdorf JI, Holm IA, Weinstein DA. Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy. Endocrinol Metab Clin North Am. Dec 1999;28(4):801-23. [Medline].

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Further Reading

Clinical guidelines:
AASLD practice guidelines: evaluation of the patient for liver transplantation. American Association for the Study of Liver Diseases - Private Nonprofit Research Organization. 2000 Jan (revised 2005 Jun). 26 pages. NGC:004333

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Keywords

glycogen storage disease type Ib, glycogen storage disease, glycogen storage, glycogen storage disease, glucose-6-phosphate, glucose-6-phosphatase, glycogen storage type, glycogen metabolism, glycogen storage diseases, glycogen diseases

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Contributor Information and Disclosures

Author

Wayne E Anderson, DO, Assistant Professor of Internal Medicine/Neurology, Western University of Health Sciences; Assistant Professor of Family Medicine, Touro University College of Osteopathic Medicine; Consulting Staff in Pain Management, Department of Neurology, California Pacific Medical Center; Consulting Staff in Neurology, Department of Neurology, California Pacific Medical Center
Wayne E Anderson, DO is a member of the following medical societies: American Academy of Neurology, American Medical Association, American Society of Law Medicine and Ethics, California Medical Association, and San Francisco Medical Society
Disclosure: Cephalon Honoraria Speaking and teaching; Pfizer Honoraria Speaking and teaching; King Honoraria Consulting

Medical Editor

Barry J Goldstein, MD, PhD, Director, Division of Endocrinology, Diabetes and Metabolic Diseases, Professor, Department of Internal Medicine, Thomas Jefferson University
Barry J Goldstein, MD, PhD is a member of the following medical societies: Alpha Omega Alpha, American College of Clinical Endocrinologists, American College of Physicians-American Society of Internal Medicine, American Diabetes Association, and Endocrine Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

Kent Wehmeier, MD, Professor, Department of Internal Medicine, Division of Endocrinology, Diabetes, and Metabolism, St Louis University School of Medicine
Kent Wehmeier, MD is a member of the following medical societies: American Society of Hypertension, Endocrine Society, and International Society for Clinical Densitometry
Disclosure: Nothing to disclose.

CME Editor

Mark Cooper, MBBS, PhD, FRACP, Head, Diabetes & Metabolism Division, Baker Heart Research Institute, Professor of Medicine, Monash University
Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD, Professor of Medicine, St Louis University School of Medicine
George T Griffing, MD is a member of the following medical societies: American Association for the Advancement of Science, American College of Medical Practice Executives, American College of Physician Executives, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical Research, Endocrine Society, International Society for Clinical Densitometry, and Southern Society for Clinical Investigation
Disclosure: Nothing to disclose.

 
 
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