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Reduced muscle glycogen phosphorylase activity

MedGen UID:
1054027
Concept ID:
CN376954
Finding
HPO: HP:6000358

Definition

Activity of the enzyme glycogen phosphorylase in muscle tissue is below the lower limit of normal. Glycogen phosphorylase (EC 2.4.1.1) is also known as amylophosphorylase, muscle phosphorylase a and b, polyphosphorylase, and myophosphorylase. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced muscle glycogen phosphorylase activity

Conditions with this feature

Glycogen storage disease, type V
MedGen UID:
5341
Concept ID:
C0017924
Disease or Syndrome
Glycogen storage disease type V (GSDV, McArdle disease) is a metabolic myopathy characterized by exercise intolerance manifested by rapid fatigue, myalgia, and cramps in exercising muscles. Symptoms are usually precipitated by isometric exercise or sustained aerobic exercise. Most individuals improve their exercise tolerance by exploiting the "second-wind" phenomenon with relief of myalgia and fatigue after a few minutes of rest. Age of onset is frequently in the first decade of life but can vary; however, diagnosis is typically delayed as myalgia and fatigability are dismissed/overlooked. Fixed muscle weakness occurs in approximately 25% of affected individuals, is more likely to involve proximal muscles, and is more common in individuals of advanced age. Approximately 50% of affected individuals have recurrent episodes of myoglobinuria that can – on occasion – eventually result in acute renal failure.

Professional guidelines

PubMed

Quinlivan R, Beynon RJ, Martinuzzi A
Cochrane Database Syst Rev 2008 Apr 16;(2):CD003458. doi: 10.1002/14651858.CD003458.pub3. PMID: 18425888
Quinlivan R, Beynon RJ
Cochrane Database Syst Rev 2004;(3):CD003458. doi: 10.1002/14651858.CD003458.pub2. PMID: 15266486

Recent clinical studies

Etiology

Pinacho R, Vila E, Prades R, Tarragó T, Castro E, Ferrer I, Ramos B
Schizophr Res 2016 Nov;177(1-3):37-43. Epub 2016 May 5 doi: 10.1016/j.schres.2016.04.024. PMID: 27156240
Fernandez-Gonzalo R, Irimia JM, Cusso R, Gustafsson T, Linné A, Tesch PA
Aviat Space Environ Med 2014 Jul;85(7):694-9. doi: 10.3357/asem.3856.2014. PMID: 25022156
Quinlivan R, Beynon RJ, Martinuzzi A
Cochrane Database Syst Rev 2008 Apr 16;(2):CD003458. doi: 10.1002/14651858.CD003458.pub3. PMID: 18425888
Quinlivan R, Beynon RJ
Cochrane Database Syst Rev 2004;(3):CD003458. doi: 10.1002/14651858.CD003458.pub2. PMID: 15266486
Jiao Y, Shashkin P, Hjeltnes N, Wallberg-Henriksson H, Katz A
Exp Physiol 2001 Mar;86(2):205-9. doi: 10.1113/eph8602068. PMID: 11429636

Diagnosis

Karazi W, Coppers J, Maas D, Cup E, Bloemen B, Voet N, Groothuis JT, Pinós T, Marti Seves R, Quinlivan R, Løkken N, Vissing J, Bhai S, Wakelin A, Reason S, Voermans NC
J Neuromuscul Dis 2024;11(1):103-116. doi: 10.3233/JND-230027. PMID: 38108358Free PMC Article
Slipsager A, Andersen LK, Voermans NC, Lucia A, Karazi W, Santalla A, Vissing J, Løkken N
Neuromuscul Disord 2024 Jan;34:19-26. Epub 2023 Nov 11 doi: 10.1016/j.nmd.2023.11.003. PMID: 38042739
Chocair PR, Mohrbacher S, de Menezes Neves PDM, Pereira LVB, Oliveira ES, Nardotto LL, Bales AM, Sato VAH, Silva SN, Ferreira BMC, Cuvello-Neto AL
BMC Geriatr 2020 Nov 5;20(1):451. doi: 10.1186/s12877-020-01812-4. PMID: 33153458Free PMC Article
Simoneau JA, Kelley DE
J Appl Physiol (1985) 1997 Jul;83(1):166-71. doi: 10.1152/jappl.1997.83.1.166. PMID: 9216960
Nyomba BL, Brautigan DL, Schlender KK, Wang W, Bogardus C, Mott DM
J Clin Invest 1991 Nov;88(5):1540-5. doi: 10.1172/JCI115464. PMID: 1658044Free PMC Article

Therapy

Pinacho R, Vila E, Prades R, Tarragó T, Castro E, Ferrer I, Ramos B
Schizophr Res 2016 Nov;177(1-3):37-43. Epub 2016 May 5 doi: 10.1016/j.schres.2016.04.024. PMID: 27156240
Fernandez-Gonzalo R, Irimia JM, Cusso R, Gustafsson T, Linné A, Tesch PA
Aviat Space Environ Med 2014 Jul;85(7):694-9. doi: 10.3357/asem.3856.2014. PMID: 25022156
Quinlivan R, Beynon RJ, Martinuzzi A
Cochrane Database Syst Rev 2008 Apr 16;(2):CD003458. doi: 10.1002/14651858.CD003458.pub3. PMID: 18425888
Quinlivan R, Beynon RJ
Cochrane Database Syst Rev 2004;(3):CD003458. doi: 10.1002/14651858.CD003458.pub2. PMID: 15266486
Newgard CB, Brady MJ, O'Doherty RM, Saltiel AR
Diabetes 2000 Dec;49(12):1967-77. doi: 10.2337/diabetes.49.12.1967. PMID: 11117996

Prognosis

Barr D, Szennyes E, Bokor É, Al-Oanzi ZH, Moffatt C, Kun S, Docsa T, Sipos Á, Davies MP, Mathomes RT, Snape TJ, Agius L, Somsák L, Hayes JM
ACS Chem Biol 2019 Jul 19;14(7):1460-1470. Epub 2019 Jun 19 doi: 10.1021/acschembio.9b00172. PMID: 31243960
Montori-Grau M, Guitart M, García-Martínez C, Orozco A, Gómez-Foix AM
BMC Biochem 2011 Nov 4;12:57. doi: 10.1186/1471-2091-12-57. PMID: 22054094Free PMC Article
Parolin ML, Chesley A, Matsos MP, Spriet LL, Jones NL, Heigenhauser GJ
Am J Physiol 1999 Nov;277(5):E890-900. doi: 10.1152/ajpendo.1999.277.5.E890. PMID: 10567017
Stallknecht B, Vissing J, Galbo H
Scand J Med Sci Sports 1998 Jun;8(3):127-31. doi: 10.1111/j.1600-0838.1998.tb00181.x. PMID: 9659671
Spriet LL, Lindinger MI, McKelvie RS, Heigenhauser GJ, Jones NL
J Appl Physiol (1985) 1989 Jan;66(1):8-13. doi: 10.1152/jappl.1989.66.1.8. PMID: 2917960

Clinical prediction guides

Pinacho R, Vila E, Prades R, Tarragó T, Castro E, Ferrer I, Ramos B
Schizophr Res 2016 Nov;177(1-3):37-43. Epub 2016 May 5 doi: 10.1016/j.schres.2016.04.024. PMID: 27156240
Quinlivan R, Beynon RJ, Martinuzzi A
Cochrane Database Syst Rev 2008 Apr 16;(2):CD003458. doi: 10.1002/14651858.CD003458.pub3. PMID: 18425888
Quinlivan R, Beynon RJ
Cochrane Database Syst Rev 2004;(3):CD003458. doi: 10.1002/14651858.CD003458.pub2. PMID: 15266486
Parolin ML, Spriet LL, Hultman E, Hollidge-Horvat MG, Jones NL, Heigenhauser GJ
Am J Physiol Endocrinol Metab 2000 Mar;278(3):E522-34. doi: 10.1152/ajpendo.2000.278.3.E522. PMID: 10710508
Stallknecht B, Vissing J, Galbo H
Scand J Med Sci Sports 1998 Jun;8(3):127-31. doi: 10.1111/j.1600-0838.1998.tb00181.x. PMID: 9659671

Recent systematic reviews

Quinlivan R, Beynon RJ, Martinuzzi A
Cochrane Database Syst Rev 2008 Apr 16;(2):CD003458. doi: 10.1002/14651858.CD003458.pub3. PMID: 18425888
Quinlivan R, Beynon RJ
Cochrane Database Syst Rev 2004;(3):CD003458. doi: 10.1002/14651858.CD003458.pub2. PMID: 15266486

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