Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Genetics of Glycogen-Storage Disease Type V Differential Diagnoses

  • Author: Edward J Cupler, MD, FAAN; Chief Editor: Maria Descartes, MD  more...
 
Updated: Nov 10, 2015
 
 
 
Contributor Information and Disclosures
Author

Edward J Cupler, MD, FAAN Head of Neurophysiology Section, Director of Neurology Residency Training Program, Consultant in Neurology, Neuromuscular Disorders, and Sports Neurology, King Faisal Specialist Hospital and Research Center, Saudi Arabia

Edward J Cupler, MD, FAAN is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, World Muscle Society

Disclosure: Received honoraria from Genzyme for speaking and teaching; Received honoraria from Pfizer for speaking and teaching.

Coauthor(s)

Cydney L Fenton, MD Director, Center for Diabetes and Endocrinology, Akron Children's Hospital

Cydney L Fenton, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, Endocrine Society, Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

Edward Kaye, MD Vice President of Clinical Research, Genzyme Corporation

Edward Kaye, MD is a member of the following medical societies: American Academy of Neurology, Society for Inherited Metabolic Disorders, American Society of Gene and Cell Therapy, American Society of Human Genetics, Child Neurology Society

Disclosure: Received salary from Genzyme Corporation for management position.

References
  1. McArdle B. Myopathy due to a defect in muscle glycogen breakdown. Clin Sci. 1951. 10:13-33.

  2. Nogales-Gadea G, Consuegra-García I, Rubio JC, Arenas J, Cuadros M, Camara Y, et al. A transcriptomic approach to search for novel phenotypic regulators in McArdle disease. PLoS One. 2012. 7(2):e31718. [Medline]. [Full Text].

  3. García-Benítez S, Fleck SJ, Naclerio F, Martín MA, Lucia A. Resistance (weight lifting) training in an adolescent with McArdle disease. J Child Neurol. 2013 Jun. 28(6):805-8. [Medline].

  4. Rubio J, Gomez-Gallego F, Santiago C, et al. Genotype modulators of clincal severity in McArdle disease. Neuroscience Letters. June 2007. 422:217-222.

  5. Lucia A, Ruiz JR, Santalla A, Nogales-Gadea G, Rubio JC, García-Consuegra I, et al. Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry. J Neurol Neurosurg Psychiatry. 2012 Mar. 83(3):322-8. [Medline].

  6. Nogales-Gadea G, Godfrey RJ, Santalla A, Coll-Cantí J, Pintos-Morell G, Pinós T, et al. Genes and exercise intolerance: Insights from McArdle disease. Physiol Genomics. 2015 Oct 13. physiolgenomics.00076.2015. [Medline].

  7. de Luna N, Brull A, Lucia A, Santalla A, Garatachea N, Martí R, et al. PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?. Neuromuscul Disord. 2014 Dec. 24 (12):1079-86. [Medline].

  8. Martinuzzi A, Sartori E, Fanin M, et al. Phenotype modulators in myophosphorylase deficiency. Ann Neurol. 2003 Apr. 53(4):497-502. [Medline].

  9. Lucia A, Nogales-Gadea G, Perez M, et al. McArdle disease: what do neurologists need to know?. Nat Clin Pract Neurol. 2008 Oct. 4(10):568-77. [Medline].

  10. Kazemi-Esfarjani P, Skomorowska E, Jensen TD, Haller RG, Vissing J. A nonischemic forearm exercise test for McArdle disease. Ann Neurol. 2002 Aug. 52(2):153-9. [Medline].

  11. 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. [Medline].

  12. Gamez J, Rubio JC, Martin MA, Fernandez-Cadenas I, Garcia-Arumi E, Andreu AL. Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease. Muscle Nerve. 2003 Sep. 28(3):380-2. [Medline].

  13. Vissing J, Haller RG. The effect of oral sucrose on exercise tolerance in patients with McArdle's disease. N Engl J Med. 2003 Dec 25. 349(26):2503-9. [Medline].

  14. Vorgerd M, Zange J, Kley R, Grehl T, Husing A, Jager M. Effect of high-dose creatine therapy on symptoms of exercise intolerance in McArdle disease: double-blind, placebo-controlled crossover study. Arch Neurol. 2002 Jan. 59(1):97-101. [Medline].

  15. Martinuzzi A, Liava A, Trevisi E, et al. Randomized, placebo-controlled, double-blind pilot trial of ramipril in McArdle's disease. Muscle Nerve. 2008 Mar. 37(3):350-7. [Medline].

  16. Andersen ST, Duno M, Schwartz M, Vissing J. Do carriers of PYGM mutations have symptoms of McArdle disease?. Neurology. 2006 Aug 22. 67(4):716-8. [Medline].

  17. Bartram C, Flannery A, Evershed RP, et al. Interrelationships between metabolism of glycogen phosphorylase and pyridoxal phosphate--implications in McArdle’s disease. Advances in Food & Nutrition Research. 1996. 40:135-47.

  18. Beynon RJ, Bartram C, Hopkins P, Toescu V, Gibson H, Phoenix J. McArdle's disease: molecular genetics and metabolic consequences of the phenotype. Muscle Nerve. 1995. 3:S18-22. [Medline].

  19. Busch V, Gempel K, Hack A. Treatment of glycogenosis type V with ketogenic diet. Ann Neurol. 2005 Aug. 58(2):341. [Medline].

  20. Busch V, Gempel K, Hack A, Müller K, Vorgerd M, Lochmuller H. Treatment of glycogenosis type V with ketogenic diet. Ann Neurol. 2005 Aug. 58(2):341. [Medline].

  21. Cornelio F, Bresolin N, DiMauro S, Mora M, et al. Congenital myopathy due to phosphorylase deficiency. Neurology. 1983 Oct. 33(10):1383-5. [Medline].

  22. DiMauro S, Andreu AL, Bruno C, Hadjigeorgiou GM. Myophosphorylase deficiency (glycogenosis type V; McArdle’s disease). Curr Mol Med. Mar 2002. 2(2):189-96.

  23. DiMauro S, Bresolin N. Phosphorylase deficiency. Myology. 1585-1601.

  24. DiMauro S, Hartlage PL. Fatal infantile form of muscle phosphorylase deficiency. Neurology. 1978 Nov. 28(11):1124-9. [Medline].

  25. DiMauro S, Tsujino S. Nonlysosomal Glycogenoses. Myology: Basic and Clinical. 2nd ed. 1994. 1557-1561.

  26. Gautron S, Daegelen D, Mennecier F, Dubocq D, Kahn A, Dreyfus JC. Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). RNA and DNA analysis. J Clin Invest. 1987 Jan. 79(1):275-81. [Medline].

  27. Gordon N. Glycogenosis type V or McArdle's disease. Dev Med Child Neurol. 2003 Sep. 45(9):640-4. [Medline].

  28. Grunfeld JP, Ganeval D, Chanard J, Fardeau M, Dreyfus JC. Acute renal failure in McArdle's disease. Report of two cases. N Engl J Med. 1972 Jun 8. 286(23):1237-41. [Medline].

  29. Haller RG, Wyrick P, Taivassalo T, Vissing J. Aerobic conditioning: an effective therapy in McArdle's disease. Ann Neurol. 2006 Jun. 59(6):922-8. [Medline].

  30. McConchie SM, Coakley J, Edwards RH, Beynon RJ. Molecular heterogeneity in McArdle's disease. Biochim Biophys Acta. 1990 Nov 14. 1096(1):26-32. [Medline].

  31. Milstein JM, Herron TM, Haas JE. Fatal infantile muscle phosphorylase deficiency. J Child Neurol. 1989 Jul. 4(3):186-8. [Medline].

  32. Miranda AF, Nette EG, Hartlage PL, DiMauro S. Phosphorylase isoenzymes in normal and myophosphorylase-deficient human heart. Neurology. 1979 Nov. 29(11):1538-41. [Medline].

  33. Moses SW. Muscle glycogenosis. J Inherit Metab Dis. 1990. 13(4):452-65. [Medline].

  34. Nielsen JN, Vissing J, Wojtaszewski JF, Haller RG, Begum N, Richter EA. Decreased insulin action in skeletal muscle from patients with McArdle's disease. Am J Physiol Endocrinol Metab. 2002 Jun. 282(6):E1267-75. [Medline].

  35. Nogales-Gadea G, Arenas J, Andreu AL. Molecular genetics of McArdle's disease. Curr Neurol Neurosci Rep. 2007 Jan. 7(1):84-92. [Medline].

  36. Ollivier K, Hogrel JY, Gomez-Merino D, Romero NB, Laforet P, Eymard B. Exercise tolerance and daily life in McArdle's disease. Muscle Nerve. 2005 May. 31(5):637-41. [Medline].

  37. Pourmand R, Sanders DB, Corwin HM. Late-onset Mcardle's disease with unusual electromyographic findings. Arch Neurol. 1983 Jun. 40(6):374-7. [Medline].

  38. Quinlivan R, Beynon RJ. Pharmacological and nutritional treatment for McArdle's disease (Glycogen Storage Disease type V). Cochrane Database Syst Rev. 2004. (3):CD003458. [Medline].

  39. Schmid R, Mahler R. Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle. J Clin Invest. 1959 Nov. 38:2044-58. [Medline].

  40. Servidei S, DiMauro S. Disorders of glycogen metabolism of muscle. Neurol Clin. 1989 Feb. 7(1):159-78. [Medline].

  41. Servidei S, Shanske S, Zeviani M, Lebo R, Fletterick R, DiMauro S. McArdle's disease: biochemical and molecular genetic studies. Ann Neurol. 1988 Dec. 24(6):774-81. [Medline].

  42. Tsujino S, Shanske S, DiMauro S. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). N Engl J Med. 1993 Jul 22. 329(4):241-5. [Medline].

  43. Tsujino S, Shanske S, Nonaka I, DiMauro S. The molecular genetic basis of myophosphorylase deficiency (McArdle's disease). Muscle Nerve. 1995. 3:S23-7. [Medline].

Previous
Next
 
Enzyme histochemistry of 19-year-old male with McArdle disease.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.