eMedicine Specialties > Endocrinology > Metabolic Disorders

Glycogen Storage Disease, Type IV: 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; Consulting Staff in Neurology, Department of Neurology, California Pacific Medical Center
Contributor Information and Disclosures

Updated: Nov 12, 2009

Follow-up

Complications

  • Hepatocellular carcinoma
  • Hepatic failure
  • Heart failure
  • Central and peripheral nerve dysfunction
  • Ventricular arrhythmia

Prognosis

  • Unfortunately, severe hepatic failure with possible malignant transformation results in death in childhood, usually by the second year. Matern and colleagues present evidence that hepatic transplant may be effective at arresting glycogen storage disease (GSD) type IV.12
  • Prognosis is critically dependent on the onset of GSD type IV (Andersen disease) and the particular manifestation of the disease.

Miscellaneous

Medicolegal Pitfalls

  • Histologically, GSD type IV appears similar to some polysaccharidosis. Measurement of branching enzyme activity is critical.
  • In adult polyglucosan disease, biopsy of the nerve is necessary to establish branching enzyme deficiency.
 


More on Glycogen Storage Disease, Type IV

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

  1. Bruno C, van Diggelen OP, Cassandrini D, et al. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology. Sep 28 2004;63(6):1053-8. [Medline].

  2. Janecke AR, Dertinger S, Ketelsen UP, et al. Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1. J Pediatr. Nov 2004;145(5):705-9. [Medline].

  3. Fernandez C, Halbert C, De Paula AM, et al. Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations. Muscle Nerve. Oct 7 2009;[Medline].

  4. Nolte KW, Janecke AR, Vorgerd M, et al. Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene. Acta Neuropathol. Nov 2008;116(5):491-506. [Medline].

  5. Lamperti C, Salani S, Lucchiari S, et al. Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene. J Inherit Metab Dis. Apr 8 2009;[Medline].

  6. Sansone V, Griggs RC, Meola G. Andersen''s syndrome: a distinct periodic paralysis. Ann Neurol. Sep 1997;42(3):305-12. [Medline].

  7. Shen J, Liu HM, McConkie-Rosell A. Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis. Prenat Diagn. Sep 1999;19(9):837-9. [Medline].

  8. Akman HO, Karadimas C, Gyftodimou Y, Grigoriadou M, Kokotas H, Konstantinidou A. Prenatal diagnosis of glycogen storage disease type IV. Prenat Diagn. Oct 2006;26(10):951-5. [Medline].

  9. 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].

  10. 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].

  11. Ewert R, Gulijew A, Wensel R. [Glycogenosis type IV as a seldom cause of cardiomyopathy - report about a successful heart transplantation]. Z Kardiol. Oct 1999;88(10):850-6. [Medline].

  12. 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].

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

  14. Aminoff MJ. Electromyography in Clinical Practice. 3rd ed. New York, NY: Churchill Livingstone; 1998.

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

  16. Bao Y, Kishnani P, Wu JY. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J Clin Invest. Feb 15 1996;97(4):941-8. [Medline].

  17. Chan YJ, Lin SP, Chen BF. Glycogen storage disease type IV: a case report. Chung Hua I Hsueh Tsa Chih (Taipei). Oct 1999;62(10):743-7. [Medline].

  18. Chen Y. Glycogen Storage Diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001:1521-51.

  19. Giuffre B, Parinii R, Rizzuti T, et al. Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings. J Inherit Metab Dis. 2004;27(5):609-19. [Medline].

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

  21. 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].

  22. 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].

  23. Selby R, Starzl TE, Yunis E. Liver transplantation for type IV glycogen storage disease. N Engl J Med. Jan 3 1991;324(1):39-42. [Medline].

  24. 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].

  25. 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].

  26. Takahashi T, Tandai S, Toki T, et al. KCNJ2 mutation in intractable ventricular arrhythmia with Andersen's syndrome. Pediatr Int. Apr 2005;47(2):220-3. [Medline].

  27. 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

Guidelines on diagnosis and treatment of pulmonary arterial hypertension. The Task Force on Diagnosis and Treatment of Pulmonary Arterial Hypertension of the European Society of Cardiology. European Society of Cardiology - Medical Specialty Society. 2004. 36 pages. NGC:004058

Clinical trials:
Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease

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Keywords

glycogen storage disease type IV, glycogen storage, glycogen storage disease, glycogen storage type, glycogen metabolism, glycogen storage diseases, glycogen diseases, branching enzyme, Andersen disease, GSD type IV, branching enzyme deficiency, amylopectinosis

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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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