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, help with reduction in symptoms, and allow for growth and development. A high-protein diet may increase exercise tolerance in some cases, although this practice is controversial.^[14]
Zingone and colleagues demonstrated the abolition of the murine clinical manifestations of von Gierke disease with a recombinant adenoviral vector.^[15]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.^[16]
Interest in glucagon treatment for McArdle disease has developed, but a study by Day and Mastaglia showed no benefit over placebo.^[17]

Diet

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

Activity

Avoidance of intense physical activity usually ameliorates symptoms.

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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. 2009 Mar. 105(5):687-94. [QxMD MEDLINE Link].
Quinlivan R, Vissing J, Hilton-Jones D, Buckley J. Physical training for McArdle disease. Cochrane Database Syst Rev. 2011 Dec 7. 12:CD007931. [QxMD MEDLINE Link].
Chéraud C, Froissart R, Lannes B, Echaniz-Laguna A. Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia. Muscle Nerve. 2018 Jan. 57 (1):157-160. [QxMD MEDLINE Link].
Quinlivan R, Buckley J, James M, Twist A, Ball S, Duno M, et al. McArdle disease: a clinical review. J Neurol Neurosurg Psychiatry. 2010 Nov. 81 (11):1182-8. [QxMD MEDLINE Link].
Bollig G. McArdle's disease (glycogen storage disease type V) and anesthesia--a case report and review of the literature. Paediatr Anaesth. 2013 Sep. 23(9):817-23. [QxMD MEDLINE Link].
Quinlivan R, Buckley J, James M, Twist A, Ball S, Duno M, et al. McArdle disease: a clinical review. J Neurol Neurosurg Psychiatry. 2010 Nov. 81 (11):1182-8. [QxMD MEDLINE Link].
Orngreen MC, Jeppesen TD, Andersen ST, et al. Fat metabolism during exercise in patients with McArdle disease. Neurology. 2009 Feb 24. 72(8):718-24. [QxMD MEDLINE Link].
Kitaoka Y. McArdle Disease and Exercise Physiology. Biology (Basel). 2014 Feb 25. 3(1):157-66. [QxMD MEDLINE Link]. [Full Text].
Porcelli S, Marzorati M, Belletti M, Bellistri G, Morandi L, Grassi B. The "second wind" in McArdle's disease patients during a second bout of constant work rate submaximal exercise. J Appl Physiol (1985). 2014 May 1. 116 (9):1230-7. [QxMD MEDLINE Link].
Jones DM, Lopes L, Quinlivan R, Elliott PM, Khanji MY. Cardiac manifestations of McArdle disease. Eur Heart J. 2019 Jan 21. 40 (4):397-398. [QxMD MEDLINE Link].
Bruno C, Bertini E, Santorelli FM. HyperCKemia as the only sign of McArdle''s disease in a child. J Child Neurol. 2000 Feb. 15(2):137-8. [QxMD MEDLINE Link].
Felice KJ, Grunnet ML, Sima AA. Selective atrophy of type 1 muscle fibers in McArdle's disease. Neurology. 1996 Aug. 47(2):581-3. [QxMD MEDLINE Link].
Andersen ST, Vissing J. Carbohydrate- and protein-rich diets in McArdle disease: effects on exercise capacity. J Neurol Neurosurg Psychiatry. 2008 Dec. 79(12):1359-63. [QxMD MEDLINE Link].
Zingone A, Hiraiwa H, Pan CJ. Correction of glycogen storage disease type 1a in a mouse model by gene therapy. J Biol Chem. 2000 Jan 14. 275(2):828-32. [QxMD MEDLINE Link].
Bijvoet AG, Van Hirtum H, Vermey M. Pathological features of glycogen storage disease type II highlighted in the knockout mouse model. J Pathol. 1999 Nov. 189(3):416-24. [QxMD MEDLINE Link].
Day TJ, Mastaglia FL. Depot-glucagon in the treatment of McArdle''s disease. Aust N Z J Med. 1985 Dec. 15(6):748-50. [QxMD MEDLINE Link].
Andersen ST, Jeppesen TD, Taivassalo T, et al. Effect of changes in fat availability on exercise capacity in McArdle disease. Arch Neurol. 2009 Jun. 66(6):762-6. [QxMD MEDLINE Link].
Amato AA. Acid maltase deficiency and related myopathies. Neurol Clin. 2000 Feb. 18(1):151-65. [QxMD MEDLINE Link].
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Media Gallery

Metabolic pathways of carbohydrates.

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Author

Isaac Omolade Ogunmola, MBBS Resident Physician, Department of Internal Medicine, Einstein Medical Center

Isaac Omolade Ogunmola, MBBS is a member of the following medical societies: European Society of Cardiology, Medical and Dental Council of Nigeria

Disclosure: Nothing to disclose.

Coauthor(s)

Catherine Anastasopoulou, MD, PhD, FACE Associate Professor of Medicine, The Steven, Daniel and Douglas Altman Chair of Endocrinology, Sidney Kimmel Medical College of Thomas Jefferson University; Einstein Endocrine Associates, Einstein Medical Center

Catherine Anastasopoulou, MD, PhD, FACE is a member of the following medical societies: American Association of Clinical Endocrinologists, American Society for Bone and Mineral Research, Endocrine Society, Philadelphia Endocrine Society

Disclosure: Nothing to disclose.

Specialty Editor Board

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

Disclosure: Received salary from Medscape for employment. for: Medscape.

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, International Society for Clinical Densitometry

Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD Professor Emeritus of Medicine, St Louis University School of Medicine

George T Griffing, MD is a member of the following medical societies: American Association for Physician Leadership, American Association for the Advancement of Science, American College of Medical Practice Executives, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical and Translational Research, Endocrine Society, International Society for Clinical Densitometry, Southern Society for Clinical Investigation

Disclosure: Nothing to disclose.

Additional Contributors

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, Missouri State Medical Association, American College of Physicians-American Society of Internal Medicine, American Diabetes Association, American Federation for Medical Research, Endocrine Society, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Wayne E Anderson, DO, FAHS, FAAN 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, FAHS, FAAN is a member of the following medical societies: American Academy of Neurology, American Headache Society, California Medical Association, California Neurology Society, International Headache Society, San Francisco Medical Society, San Francisco Neurological Society

Disclosure: Nothing to disclose.