eMedicine Specialties > Endocrinology > Metabolic Disorders

Glycogen Storage Disease, Type III: Follow-up

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
Contributor Information and Disclosures

Updated: Sep 20, 2007

Follow-up

Complications

  • Hepatocellular carcinoma
  • Hepatic failure

Prognosis

  • Unfortunately, severe hepatic failure with possible malignant transformation may be fatal. Matern and colleagues (1999) present evidence that hepatic transplant may be effective at arresting this condition.8

Miscellaneous

Medicolegal Pitfalls

  • Because of the risk of hepatocellular carcinoma, lesions of the liver must be diagnosed and followed aggressively.
  • Adequate treatment of hypoglycemia is essential. Diet may be supplemented with protein to serve as an alternative for the production of glucose.
 


More on Glycogen Storage Disease, Type III

Overview: Glycogen Storage Disease, Type III
Differential Diagnoses & Workup: Glycogen Storage Disease, Type III
Treatment & Medication: Glycogen Storage Disease, Type III
Follow-up: Glycogen Storage Disease, Type III
Multimedia: Glycogen Storage Disease, Type III
References
[ CLOSE WINDOW ]

References

  1. Okubo M, Kanda F, Horinishi A, et al. Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient. Hum Mutat (Online). 14(6):542-3. [Medline].

  2. Lam CW, Lee AT, Lam YY, et al. DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese. Mol Genet Metab. Nov 2004;83(3):271-5. [Medline].

  3. Zimakas PJ, Rodd CJ. Glycogen storage disease type III in Inuit children. CMAJ. Feb 1 2005;172(3):355-8. [Medline].

  4. Ingle SA, Moulick ND, Ranadive NU, Khedekar K. Hepatocellular failure in glycogen storage disorder type 3. J Assoc Physicians India. Feb 2004;52:158-60. [Medline].

  5. Demo E, Frush D, Gottfried M, Koepke J, Boney A, Bali D. Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?. J Hepatol. Mar 2007;46(3):492-8. [Medline].

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

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

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

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

  10. Aminoff MJ. Electromyography in Clinical Practice. New York, NY: Churchill Livingstone; 1998.

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

  12. Chen Y. The Metabolic and Molecular Bases of Inherited Disease. In: Scriver CR, Beaudet AL, Sly WS, et al. Glycogen Storage Diseases. New York, NY: McGraw-Hill; 2001:1521-51.

  13. Coleman RA, Winter HS, Wolf B, et al. Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy. Ann Intern Med. 116(11):896-900. [Medline].

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

  15. Gregory BL, Shelton GD, Bali DS, Chen YT, Fyfe JC. Glycogen storage disease type IIIa in curly-coated retrievers. J Vet Intern Med. Jan-Feb 2007;21(1):40-6. [Medline].

  16. Gremse DA, Bucuvalas JC, Balistreri WF. Efficacy of cornstarch therapy in type III glycogen-storage disease. Am J Clin Nutr. Oct 1990;52(4):671-4. [Medline].

  17. Levin S, Moses SW, Chayoth R, et al. Glycogen storage disease in Israel. A clinical, biochemical and genetic study. Isr J Med Sci. May-Jun 1967;3(3):397-410. [Medline].

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

  19. Shaiu WL, Kishnani PS, Shen J, et al. Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. Mol Genet Metab. 69(1):16-23. [Medline].

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

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

  22. Vincentiis S, Valente KD, Valente M. Polymicrogyria in glycogenosis type III: an incidental finding?. Pediatr Neurol. Aug 2004;31(2):143-5. [Medline].

  23. 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].

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

Keywords

Cori disease, GSD type III, Illingworth-Cori-Forbes disease, amylo-1,6-glucosidase debrancher deficiency, glycogenosis III, debranching enzyme deficiency, limit dextrinosis, GSD type 0, glycogen synthase deficiency, GSD type Ia, glucose-6-phosphatase deficiency, G-6-P deficiency, von Gierke disease, GSD type II, acid maltase deficiency, Pompe disease, Forbes-Cori disease, GSD type IV, transglucosidase deficiency, Andersen disease, amylopectinosis, GSD type V, myophosphorylase deficiency, McArdle disease, GSD type VI, phosphorylase deficiency, Hers disease, GSD type VII, phosphofructokinase deficiency, Tarui disease

[ CLOSE WINDOW ]

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
Wayne E Anderson, DO is a member of the following medical societies: American Academy of Neurology, American Academy of Pain Medicine, American Medical Association, American Society of Law Medicine and Ethics, California Medical Association, and San Francisco Medical Society
Disclosure: Cephalon Honoraria Speaking and teaching; Janssen Honoraria Speaking and teaching; Ligand Honoraria Consulting; Alpharma Honoraria Speaking and teaching

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: Nothing to disclose.

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, MD, Head, Vascular Division, Baker Medical Research Institute; Professor of Medicine, Monash University
Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD, Professor of Medicine, Director of General Internal Medicine, St Louis University
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, and Endocrine Society
Disclosure: Nothing to disclose.

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.