Type V Glycogen Storage Disease Treatment & Management
- Author: Wayne E Anderson, DO; Chief Editor: George T Griffing, MD more...
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]
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.
Duno M, Quinlivan R, Vissing J, et al. High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease. Ann Hum Genet. May 2009;73:292-7. [Medline].
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].
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].
Quinlivan R, Vissing J, Hilton-Jones D, Buckley J. Physical training for McArdle disease. Cochrane Database Syst Rev. Dec 7 2011;12:CD007931. [Medline].
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].
Felice KJ, Schneebaum AB, Jones HR Jr. McArdle's disease with late-onset symptoms: case report and review of the literature. J Neurol Neurosurg Psychiatry. May 1992;55(5):407-8. [Medline].
Pourmand R, Sanders DB, Corwin HM. Late-onset Mcardle's disease with unusual electromyographic findings. Arch Neurol. Jun 1983;40(6):374-7. [Medline].
Quinlivan R, Buckley J, James M, Twist A, Ball S, Duno M, et al. McArdle disease: a clinical review. J Neurol Neurosurg Psychiatry. Nov 2010;81(11):1182-8. [Medline].
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].
Braakhekke JP, de Bruin MI, Stegeman DF. The second wind phenomenon in McArdle's disease. Brain. 109 (Pt 6):1087-101. [Medline].
Voduc N, Webb KA, D'Arsigny C, et al. McArdle's disease presenting as unexplained dyspnea in a young woman. Can Respir J. Mar 2004;11(2):163-7. [Medline].
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].
Felice KJ, Grunnet ML, Sima AA. Selective atrophy of type 1 muscle fibers in McArdle's disease. Neurology. Aug 1996;47(2):581-3. [Medline].
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].
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].
Andersen ST, Vissing J. Carbohydrate- and protein-rich diets in McArdle disease: effects on exercise capacity. J Neurol Neurosurg Psychiatry. Dec 2008;79(12):1359-63. [Medline].
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].
Pillarisetti J, Ahmed A. McArdle disease presenting as acute renal failure. South Med J. Mar 2007;100(3):313-6. [Medline].
Amato AA. Acid maltase deficiency and related myopathies. Neurol Clin. Feb 2000;18(1):151-65. [Medline].
Aminoff MJ, ed. Electromyography in Clinical Practice. 3rd ed. New York, NY: Churchill Livingstone; 1998.
Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics. Jan 2000;105(1):e10. [Medline].
Chen Y. Glycogen Storage Diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B, eds. The Metabolic and Molecular Bases of Inherited Disease. Vol 1. 8th ed. New York, NY: McGraw-Hill; 2000:1537-8.
Chiado-Piat L, Mongini T, Doriguzzi C. Clinical spectrum of McArdle disease: three cases with unusual expression. Eur Neurol. 1993;33(3):208-11. [Medline].
Chui LA, Munsat TL. Dominant inheritance of McArdle syndrome. Arch Neurol. Sep 1976;33(9):636-41. [Medline].
Goldberg T, Slonim AE. Nutrition therapy for hepatic glycogen storage diseases. J Am Diet Assoc. Dec 1993;93(12):1423-30. [Medline].
Isackson PJ, Tarnopolsky M, Vladutiu GD. A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease. Mol Genet Metab. Jul 2005;85(3):239-42. [Medline].
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].
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].
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].
Pillarisetti J, Ahmed A. McArdle disease presenting as acute renal failure. South Med J. Mar 2007;100(3):313-6. [Medline].
Quintans B, Sanchez-Andrade A, Teijeira S, Fernandez-Hojas R, Rivas E, López MJ. A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease. Arch Neurol. Jul 2004;61(7):1108-10. [Medline].
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].
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].
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].

