eMedicine Specialties > Endocrinology > Metabolic Disorders

Glycogen Storage Disease, Type II: Multimedia

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

Multimedia

Glycogen storage disease, type II. Metabolic path...Media file 1: Glycogen storage disease, type II. Metabolic pathways of carbohydrates.
Glycogen storage disease, type II. Metabolic path...

Glycogen storage disease, type II. Metabolic pathways of carbohydrates.

More on Glycogen Storage Disease, Type II

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

References

  1. 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].

  2. Gort L, Coll MJ, Chabás A. Glycogen storage disease type II in Spanish patients: High frequency of c.1076-1G>C mutation. Mol Genet Metab. Sep-Oct 2007;92(1-2):183-7. [Medline].

  3. Martiniuk F, Chen A, Mack A. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet. Aug 27 1998;79(1):69-72. [Medline].

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

  5. 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].

  6. Bijvoet AG, Van Hirtum H, Kroos MA. Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. Hum Mol Genet. Nov 1999;8(12):2145-53. [Medline].

  7. Phupong V, Shotelersuk V. Prenatal exclusion of Pompe disease by electron microscopy. Southeast Asian J Trop Med Public Health. Sep 2006;37(5):1021-4. [Medline].

  8. Mah C, Cresawn KO, Fraites TJ Jr, Pacak CA, Lewis MA, Zolotukhin I. Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectors. Gene Ther. Sep 2005;12(18):1405-9. [Medline].

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

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

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  12. Hirshhorn R, Reuser A. Glycogen Storage Disease Type II: Acid alpha-Glucosidase (Acid Maltase) Deficiency. In: The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 2001:3389-3420.

  13. Melvin JJ. Pompe's disease. Arch Neurol. Jan 2000;57(1):134-5. [Medline].

  14. 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].

  15. Sahin M, du Plessis AJ. Hydrocephalus associated with glycogen storage disease type II (Pompe's disease). Pediatr Neurol. Sep 1999;21(3):674-6. [Medline].

  16. 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].

  17. 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].

  18. Sun B, Zhang H, Franco LM, Brown T, Bird A, Schneider A. Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter. Mol Ther. Jun 2005;11(6):889-98. [Medline].

  19. 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].

Further Reading

Keywords

Pompe disease, acid maltase deficiency, type II glycogen storage disease, glycogen storage disease, GSD type II, lysosomal alpha-1,4-glucosidase deficiency, Cori disease, GSD type III, debranching enzyme deficiency, McArdle disease, GSD type V, myophosphorylase deficiency, Tarui disease, GSD type VII, phosphofructokinase deficiency, von Gierke disease, GSD type Ia, glucose-6-phosphatase deficiency, enzyme defects, glycogen accumulation, glycogen synthase deficiency, glucose-6-phosphatase deficiency, G-6-P deficiency, Pompe disease, Forbes-Cori disease, GSD type IV, transglucosidase deficiency, Andersen disease, amylopectinosis, GSD type VI, phosphorylase deficiency, Hers disease

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, 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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