U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Glycogen storage disease type II, infantile

MedGen UID:
148252
Concept ID:
C0751173
Disease or Syndrome
Synonyms: Glycogen Storage Disease Type II, Infantile; Infantile Glycogen Storage Disease Type II

Definition

The late-onset type of Pompe disease may not become apparent until later in childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder than the infantile-onset forms of this disorder and is less likely to involve the heart. Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.

The non-classic form of infantile-onset Pompe disease usually appears by age 1. It is characterized by delayed motor skills (such as rolling over and sitting) and progressive muscle weakness. The heart may be abnormally large (cardiomegaly), but affected individuals usually do not experience heart failure. The muscle weakness in this disorder leads to serious breathing problems, and most children with non-classic infantile-onset Pompe disease live only into early childhood.

The classic form of infantile-onset Pompe disease begins within a few months of birth. Infants with this disorder typically experience muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart defects. Affected infants may also fail to gain weight and grow at the expected rate (failure to thrive) and have breathing problems. If untreated, this form of Pompe disease leads to death from heart failure in the first year of life.

Researchers have described three types of Pompe disease, which differ in severity and the age at which they appear. These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset.

Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally. [from MedlinePlus Genetics]

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
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free 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

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
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
Diaz-Manera J, Kishnani PS, Kushlaf H, Ladha S, Mozaffar T, Straub V, Toscano A, van der Ploeg AT, Berger KI, Clemens PR, Chien YH, Day JW, Illarioshkin S, Roberts M, Attarian S, Borges JL, Bouhour F, Choi YC, Erdem-Ozdamar S, Goker-Alpan O, Kostera-Pruszczyk A, Haack KA, Hug C, Huynh-Ba O, Johnson J, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group
Lancet Neurol 2021 Dec;20(12):1012-1026. doi: 10.1016/S1474-4422(21)00241-6. PMID: 34800399
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ
Nat Rev Dis Primers 2018 Oct 1;4(1):27. doi: 10.1038/s41572-018-0025-4. PMID: 30275469

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
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free 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

Diaz-Manera J, Kishnani PS, Kushlaf H, Ladha S, Mozaffar T, Straub V, Toscano A, van der Ploeg AT, Berger KI, Clemens PR, Chien YH, Day JW, Illarioshkin S, Roberts M, Attarian S, Borges JL, Bouhour F, Choi YC, Erdem-Ozdamar S, Goker-Alpan O, Kostera-Pruszczyk A, Haack KA, Hug C, Huynh-Ba O, Johnson J, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group
Lancet Neurol 2021 Dec;20(12):1012-1026. doi: 10.1016/S1474-4422(21)00241-6. PMID: 34800399
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
Meena NK, Raben N
Biomolecules 2020 Sep 18;10(9) doi: 10.3390/biom10091339. PMID: 32962155Free 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
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

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
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
Meena NK, Raben N
Biomolecules 2020 Sep 18;10(9) doi: 10.3390/biom10091339. PMID: 32962155Free PMC Article
Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ
Nat Rev Dis Primers 2018 Oct 1;4(1):27. doi: 10.1038/s41572-018-0025-4. PMID: 30275469
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

Kishnani PS, Kronn D, Brassier A, Broomfield A, Davison J, Hahn SH, Kumada S, Labarthe F, Ohki H, Pichard S, Prakalapakorn SG, Haack KA, Kittner B, Meng X, Sparks S, Wilson C, Zaher A, Chien YH; Mini-COMET Investigators
Genet Med 2023 Feb;25(2):100328. Epub 2022 Dec 21 doi: 10.1016/j.gim.2022.10.010. PMID: 36542086
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
Diaz-Manera J, Kishnani PS, Kushlaf H, Ladha S, Mozaffar T, Straub V, Toscano A, van der Ploeg AT, Berger KI, Clemens PR, Chien YH, Day JW, Illarioshkin S, Roberts M, Attarian S, Borges JL, Bouhour F, Choi YC, Erdem-Ozdamar S, Goker-Alpan O, Kostera-Pruszczyk A, Haack KA, Hug C, Huynh-Ba O, Johnson J, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group
Lancet Neurol 2021 Dec;20(12):1012-1026. doi: 10.1016/S1474-4422(21)00241-6. PMID: 34800399
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
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

Sarah B, Giovanna B, Emanuela K, Nadi N, Josè V, Alberto P
J Neurol 2022 Feb;269(2):733-741. Epub 2021 Apr 13 doi: 10.1007/s00415-021-10526-5. PMID: 33851281Free PMC Article
van Kooten HA, Roelen CHA, Brusse E, van der Beek NAME, Michels M, van der Ploeg AT, Wagenmakers MAEM, van Doorn PA
Neuromuscul Disord 2021 Feb;31(2):79-90. Epub 2020 Nov 9 doi: 10.1016/j.nmd.2020.10.009. PMID: 33386209
Chan J, Desai AK, Kazi ZB, Corey K, Austin S, Hobson-Webb LD, Case LE, Jones HN, Kishnani PS
Mol Genet Metab 2017 Mar;120(3):163-172. Epub 2016 Dec 11 doi: 10.1016/j.ymgme.2016.12.004. PMID: 28185884
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
Yanovitch TL, Banugaria SG, Proia AD, Kishnani PS
J Pediatr Ophthalmol Strabismus 2010 Jan-Feb;47(1):34-40. Epub 2010 Jan 21 doi: 10.3928/01913913-20100106-08. PMID: 20128552

Supplemental Content

Table of contents

    Genetic Testing Registry

    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.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...