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Glycogen storage disease

MedGen UID:
6639
Concept ID:
C0017919
Disease or Syndrome
Synonyms: Disorder of glycogen metabolism; glycogen storage disorder
SNOMED CT: GSD - Glycogen storage disease (29633007); Glycogen storage disease (29633007); Glycogenosis (29633007)
 
Related genes: PYGM, PHKG2, PHKB, PHKA2, PHKA1, PGM1, PGAM2, PFKM, LDHA, GYG1, GBE1, GAA, SLC37A4, G6PC1, ENO3, ALDOA, AGL
 
Monarch Initiative: MONDO:0002412
OMIM® Phenotypic series: PS232200
Orphanet: ORPHA79201

Definition

An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. [from NCI]

Term Hierarchy

Follow this link to review classifications for Glycogen storage disease in Orphanet.

Professional guidelines

PubMed

Derks TGJ, Rodriguez-Buritica DF, Ahmad A, de Boer F, Couce ML, Grünert SC, Labrune P, López Maldonado N, Fischinger Moura de Souza C, Riba-Wolman R, Rossi A, Saavedra H, Gupta RN, Valayannopoulos V, Mitchell J
Nutrients 2021 Oct 27;13(11) doi: 10.3390/nu13113828. PMID: 34836082Free PMC Article
Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics
Genet Med 2014 Nov;16(11):e1. doi: 10.1038/gim.2014.128. PMID: 25356975
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG
Genet Med 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. PMID: 20631546

Curated

American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders

Recent clinical studies

Etiology

Hannah WB, Derks TGJ, Drumm ML, Grünert SC, Kishnani PS, Vissing J
Nat Rev Dis Primers 2023 Sep 7;9(1):46. doi: 10.1038/s41572-023-00456-z. PMID: 37679331
Gümüş E, Özen H
World J Gastroenterol 2023 Jul 7;29(25):3932-3963. doi: 10.3748/wjg.v29.i25.3932. PMID: 37476587Free PMC Article
Derks TGJ, Rodriguez-Buritica DF, Ahmad A, de Boer F, Couce ML, Grünert SC, Labrune P, López Maldonado N, Fischinger Moura de Souza C, Riba-Wolman R, Rossi A, Saavedra H, Gupta RN, Valayannopoulos V, Mitchell J
Nutrients 2021 Oct 27;13(11) doi: 10.3390/nu13113828. PMID: 34836082Free PMC Article
Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics
Genet Med 2014 Nov;16(11):e1. doi: 10.1038/gim.2014.128. PMID: 25356975
Ozen H
World J Gastroenterol 2007 May 14;13(18):2541-53. doi: 10.3748/wjg.v13.i18.2541. PMID: 17552001Free PMC Article

Diagnosis

Hannah WB, Derks TGJ, Drumm ML, Grünert SC, Kishnani PS, Vissing J
Nat Rev Dis Primers 2023 Sep 7;9(1):46. doi: 10.1038/s41572-023-00456-z. PMID: 37679331
Gümüş E, Özen H
World J Gastroenterol 2023 Jul 7;29(25):3932-3963. doi: 10.3748/wjg.v29.i25.3932. PMID: 37476587Free PMC Article
Taverna S, Cammarata G, Colomba P, Sciarrino S, Zizzo C, Francofonte D, Zora M, Scalia S, Brando C, Curto AL, Marsana EM, Olivieri R, Vitale S, Duro G
Aging (Albany NY) 2020 Aug 3;12(15):15856-15874. doi: 10.18632/aging.103794. PMID: 32745073Free PMC Article
Bay LB, Denzler I, Durand C, Eiroa H, Frabasil J, Fainboim A, Maxit C, Schenone A, Spécola N
Arch Argent Pediatr 2019 Aug 1;117(4):271-278. doi: 10.5546/aap.2019.eng.271. PMID: 31339275
van der Ploeg AT, Reuser AJ
Lancet 2008 Oct 11;372(9646):1342-53. doi: 10.1016/S0140-6736(08)61555-X. PMID: 18929906

Therapy

Kishnani PS, Diaz-Manera J, Toscano A, Clemens PR, Ladha S, Berger KI, Kushlaf H, Straub V, Carvalho G, Mozaffar T, Roberts M, Attarian S, Chien YH, Choi YC, Day JW, Erdem-Ozdamar S, Illarioshkin S, Goker-Alpan O, Kostera-Pruszczyk A, van der Ploeg AT, An Haack K, Huynh-Ba O, Tammireddy S, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group
JAMA Neurol 2023 Jun 1;80(6):558-567. doi: 10.1001/jamaneurol.2023.0552. PMID: 37036722Free PMC Article
Schoser B, Roberts M, Byrne BJ, Sitaraman S, Jiang H, Laforêt P, Toscano A, Castelli J, Díaz-Manera J, Goldman M, van der Ploeg AT, Bratkovic D, Kuchipudi S, Mozaffar T, Kishnani PS; PROPEL Study Group
Lancet Neurol 2021 Dec;20(12):1027-1037. doi: 10.1016/S1474-4422(21)00331-8. PMID: 34800400
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
van der Ploeg AT, Reuser AJ
Lancet 2008 Oct 11;372(9646):1342-53. doi: 10.1016/S0140-6736(08)61555-X. PMID: 18929906
Kannourakis G
Semin Hematol 2002 Apr;39(2):103-6. doi: 10.1053/shem.2002.31920. PMID: 11957192

Prognosis

Hannah WB, Derks TGJ, Drumm ML, Grünert SC, Kishnani PS, Vissing J
Nat Rev Dis Primers 2023 Sep 7;9(1):46. doi: 10.1038/s41572-023-00456-z. PMID: 37679331
Gümüş E, Özen H
World J Gastroenterol 2023 Jul 7;29(25):3932-3963. doi: 10.3748/wjg.v29.i25.3932. PMID: 37476587Free PMC Article
Meena NK, Raben N
Biomolecules 2020 Sep 18;10(9) doi: 10.3390/biom10091339. PMID: 32962155Free PMC Article
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG
Genet Med 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. PMID: 20631546
van der Ploeg AT, Reuser AJ
Lancet 2008 Oct 11;372(9646):1342-53. doi: 10.1016/S0140-6736(08)61555-X. PMID: 18929906

Clinical prediction guides

Muzetti JH, do Valle DA, Santos MLSF, Telles BA, Cordeiro ML
Front Endocrinol (Lausanne) 2021;12:685272. Epub 2021 May 21 doi: 10.3389/fendo.2021.685272. PMID: 34093448Free PMC Article
Reuser AJJ, van der Ploeg AT, Chien YH, Llerena J Jr, Abbott MA, Clemens PR, Kimonis VE, Leslie N, Maruti SS, Sanson BJ, Araujo R, Periquet M, Toscano A, Kishnani PS, On Behalf Of The Pompe Registry Sites
Hum Mutat 2019 Nov;40(11):2146-2164. Epub 2019 Aug 7 doi: 10.1002/humu.23878. PMID: 31342611Free PMC Article
Ellingwood SS, Cheng A
J Endocrinol 2018 Sep;238(3):R131-R141. Epub 2018 Jun 6 doi: 10.1530/JOE-18-0120. PMID: 29875163Free PMC Article
Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT; AANEM Consensus Committee on Late-onset Pompe Disease
Muscle Nerve 2012 Mar;45(3):319-33. Epub 2011 Dec 15 doi: 10.1002/mus.22329. PMID: 22173792Free PMC Article
Kannourakis G
Semin Hematol 2002 Apr;39(2):103-6. doi: 10.1053/shem.2002.31920. PMID: 11957192

Recent systematic reviews

Zelei T, Kovács S, Finn P, Nagy D, Sikirica V, Carlson KB, Vokó Z
J Pediatr Endocrinol Metab 2023 Sep 26;36(9):809-817. Epub 2023 Aug 25 doi: 10.1515/jpem-2023-0127. PMID: 37615591
Quinlivan R, Martinuzzi A, Schoser B
Cochrane Database Syst Rev 2014 Nov 12;2014(11):CD003458. doi: 10.1002/14651858.CD003458.pub5. PMID: 25391139Free PMC Article
Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT; AANEM Consensus Committee on Late-onset Pompe Disease
Muscle Nerve 2012 Mar;45(3):319-33. Epub 2011 Dec 15 doi: 10.1002/mus.22329. PMID: 22173792Free PMC Article
Quinlivan R, Martinuzzi A, Schoser B
Cochrane Database Syst Rev 2010 Dec 8;(12):CD003458. doi: 10.1002/14651858.CD003458.pub4. PMID: 21154353
Quinlivan R, Beynon RJ, Martinuzzi A
Cochrane Database Syst Rev 2008 Apr 16;(2):CD003458. doi: 10.1002/14651858.CD003458.pub3. PMID: 18425888

Supplemental Content

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    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2011
      American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders

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