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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
Ross KM, Ferrecchia IA, Dahlberg KR, Dambska M, Ryan PT, Weinstein DA
Adv Nutr 2020 Mar 1;11(2):439-446. doi: 10.1093/advances/nmz092. PMID: 31665208Free 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

Curated

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

Recent clinical studies

Etiology

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
Molares-Vila A, Corbalán-Rivas A, Carnero-Gregorio M, González-Cespón JL, Rodríguez-Cerdeira C
Int J Mol Sci 2021 Apr 22;22(9) doi: 10.3390/ijms22094381. PMID: 33922238Free PMC Article
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free 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

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
Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P
Orphanet J Rare Dis 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. PMID: 21599942Free 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

Therapy

Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
Ross KM, Ferrecchia IA, Dahlberg KR, Dambska M, Ryan PT, Weinstein DA
Adv Nutr 2020 Mar 1;11(2):439-446. doi: 10.1093/advances/nmz092. PMID: 31665208Free PMC Article
Kishnani PS, Sun B, Koeberl DD
Hum Mol Genet 2019 Oct 1;28(R1):R31-R41. doi: 10.1093/hmg/ddz133. PMID: 31227835Free PMC Article
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
van der Ploeg AT, Reuser AJ
Lancet 2008 Oct 11;372(9646):1342-53. doi: 10.1016/S0140-6736(08)61555-X. PMID: 18929906

Prognosis

Meena NK, Raben N
Biomolecules 2020 Sep 18;10(9) doi: 10.3390/biom10091339. PMID: 32962155Free PMC Article
Khanna R, Verma SK
World J Gastroenterol 2018 Sep 21;24(35):3980-3999. doi: 10.3748/wjg.v24.i35.3980. PMID: 30254403Free PMC Article
Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P
Orphanet J Rare Dis 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. PMID: 21599942Free 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

De Groot AS, Desai AK, Lelias S, Miah SMS, Terry FE, Khan S, Li C, Yi JS, Ardito M, Martin WD, Kishnani PS
Front Immunol 2021;12:636731. Epub 2021 Jun 16 doi: 10.3389/fimmu.2021.636731. PMID: 34220802Free PMC Article
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
Sentner CP, Hoogeveen IJ, Weinstein DA, Santer R, Murphy E, McKiernan PJ, Steuerwald U, Beauchamp NJ, Taybert J, Laforêt P, Petit FM, Hubert A, Labrune P, Smit GPA, Derks TGJ
J Inherit Metab Dis 2016 Sep;39(5):697-704. Epub 2016 Apr 22 doi: 10.1007/s10545-016-9932-2. PMID: 27106217Free 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

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
Roger AL, Sethi R, Huston ML, Scarrow E, Bao-Dai J, Lai E, Biswas DD, El Haddad L, Strickland LM, Kishnani PS, ElMallah MK
Expert Opin Biol Ther 2022 Sep;22(9):1117-1135. Epub 2022 Apr 27 doi: 10.1080/14712598.2022.2067476. PMID: 35428407Free PMC Article
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

Supplemental Content

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    Clinical resources

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      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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