Type V Glycogen Storage Disease Treatment & Management

  • Author: Wayne E Anderson, DO; Chief Editor: George T Griffing, MD   more...
 
Updated: Jan 3, 2012
 

Medical Care

  • In general, no specific treatment exists for GSDs.
  • 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.[14] 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.[15]
  • A high-protein diet may increase exercise tolerance in some cases, although this practice is controversial.[16]
  • Interest in glucagon treatment for McArdle disease has developed, but a study by Day and Mastaglia showed no benefit over placebo.[17]
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Diet

A high-protein diet may increase exercise tolerance in some cases, although this practice is controversial.

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Activity

Avoidance of intense physical activity usually ameliorates symptoms.

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Contributor Information and Disclosures
Author

Wayne E Anderson, DO  Assistant Professor of Internal Medicine/Neurology, College of Osteopathic Medicine of the Pacific Western University of Health Sciences; Clinical Faculty in Family Medicine, Touro University College of Osteopathic Medicine; Clinical Instructor, Departments of Neurology and Pain Management, 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 & Ethics, California Medical Association, and San Francisco Medical Society

Disclosure: Cephalon Honoraria Speaking and teaching; Pfizer Honoraria Speaking and teaching; King Honoraria Speaking and teaching; Forest Honoraria Speaking and teaching

Specialty Editor Board

David M Klachko, MD, MEd  Professor Emeritus, Department of Internal Medicine, Division of Endocrinology, Diabetes, and Metabolism, University of Missouri-Columbia School of Medicine

David M Klachko, MD, MEd is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, American Diabetes Association, American Federation for Medical Research, Endocrine Society, Missouri State Medical Association, and Sigma Xi

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

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.

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.

References

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  2. Andersen ST, Jeppesen TD, Taivassalo T, et al. Effect of changes in fat availability on exercise capacity in McArdle disease. Arch Neurol. Jun 2009;66(6):762-6. [Medline].

  3. Kemp GJ, Tonon C, Malucelli E, et al. Cytosolic pH buffering during exercise and recovery in skeletal muscle of patients with McArdle's disease. Eur J Appl Physiol. Mar 2009;105(5):687-94. [Medline].

  4. Quinlivan R, Vissing J, Hilton-Jones D, Buckley J. Physical training for McArdle disease. Cochrane Database Syst Rev. Dec 7 2011;12:CD007931. [Medline].

  5. Wolfe GI, Baker NS, Haller RG. McArdle's disease presenting with asymmetric, late-onset arm weakness. Muscle Nerve. Apr 2000;23(4):641-5. [Medline].

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  9. Orngreen MC, Jeppesen TD, Andersen ST, et al. Fat metabolism during exercise in patients with McArdle disease. Neurology. Feb 24 2009;72(8):718-24. [Medline].

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  12. Bruno C, Bertini E, Santorelli FM. HyperCKemia as the only sign of McArdle's disease in a child. J Child Neurol. Feb 2000;15(2):137-8. [Medline].

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  14. 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].

  15. 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].

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  17. Day TJ, Mastaglia FL. Depot-glucagon in the treatment of McArdle's disease. Aust N Z J Med. Dec 1985;15(6):748-50. [Medline].

  18. Pillarisetti J, Ahmed A. McArdle disease presenting as acute renal failure. South Med J. Mar 2007;100(3):313-6. [Medline].

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  21. 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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  27. Martin MA, Rubio JC, Campos Y. Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease. Hum Mutat (Online). Mar 2000;15(3):294. [Medline].

  28. O'Dochartaigh CS, Ong HY, Lovell SM, et al. Oxygen consumption is increased relative to work rate in patients with McArdle's disease. Eur J Clin Invest. Nov 2004;34(11):731-7. [Medline].

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