U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form

MedGen UID:
343525
•Concept ID:
C1856306
•
Disease or Syndrome
Synonym: GSD IV, neuromuscular form, adult, with isolated myopathy
 
Monarch Initiative: MONDO:0017701
OMIM®: 232500
Orphanet: ORPHA308712

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGlycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form

Recent clinical studies

Etiology

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.
Koch RL, Kiely BT, Choi SJ, Jeck WR, Flores LS, Sood V, Alam S, Porta G, LaVecchio K, Soler-Alfonso C, Kishnani PS
JCI Insight 2024 May 14;9(12) doi: 10.1172/jci.insight.177722. PMID: 38912588Free PMC Article
Update on polyglucosan storage diseases.
Cenacchi G, Papa V, Costa R, Pegoraro V, Marozzo R, Fanin M, Angelini C
Virchows Arch 2019 Dec;475(6):671-686. Epub 2019 Jul 30 doi: 10.1007/s00428-019-02633-6. PMID: 31363843
Branching enzyme deficiency: expanding the clinical spectrum.
Paradas C, Akman HO, Ionete C, Lau H, Riskind PN, Jones DE, Smith TW, Hirano M, Dimauro S
JAMA Neurol 2014 Jan;71(1):41-7. doi: 10.1001/jamaneurol.2013.4888. PMID: 24248152Free PMC Article

Diagnosis

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.
Koch RL, Kiely BT, Choi SJ, Jeck WR, Flores LS, Sood V, Alam S, Porta G, LaVecchio K, Soler-Alfonso C, Kishnani PS
JCI Insight 2024 May 14;9(12) doi: 10.1172/jci.insight.177722. PMID: 38912588Free PMC Article
GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.
Souza PVS, Badia BML, Farias IB, Pinto WBVR, Oliveira ASB, Akman HO, DiMauro S
J Inherit Metab Dis 2021 May;44(3):534-543. Epub 2020 Nov 13 doi: 10.1002/jimd.12325. PMID: 33141444
Update on polyglucosan storage diseases.
Cenacchi G, Papa V, Costa R, Pegoraro V, Marozzo R, Fanin M, Angelini C
Virchows Arch 2019 Dec;475(6):671-686. Epub 2019 Jul 30 doi: 10.1007/s00428-019-02633-6. PMID: 31363843
Branching enzyme deficiency: expanding the clinical spectrum.
Paradas C, Akman HO, Ionete C, Lau H, Riskind PN, Jones DE, Smith TW, Hirano M, Dimauro S
JAMA Neurol 2014 Jan;71(1):41-7. doi: 10.1001/jamaneurol.2013.4888. PMID: 24248152Free PMC Article
Liver transplantation for glycogen storage disease types I, III, and IV.
Matern D, Starzl TE, Arnaout W, Barnard J, Bynon JS, Dhawan A, Emond J, Haagsma EB, Hug G, Lachaux A, Smit GP, Chen YT
Eur J Pediatr 1999 Dec;158 Suppl 2(Suppl 2):S43-8. doi: 10.1007/pl00014320. PMID: 10603098Free PMC Article

Therapy

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.
Koch RL, Kiely BT, Choi SJ, Jeck WR, Flores LS, Sood V, Alam S, Porta G, LaVecchio K, Soler-Alfonso C, Kishnani PS
JCI Insight 2024 May 14;9(12) doi: 10.1172/jci.insight.177722. PMID: 38912588Free PMC Article
A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome.
Schiffmann R, Wallace ME, Rinaldi D, Ledoux I, Luton MP, Coleman S, Akman HO, Martin K, Hogrel JY, Blankenship D, Turner J, Mochel F
J Inherit Metab Dis 2018 Sep;41(5):877-883. Epub 2017 Nov 6 doi: 10.1007/s10545-017-0103-x. PMID: 29110179

Prognosis

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.
Koch RL, Kiely BT, Choi SJ, Jeck WR, Flores LS, Sood V, Alam S, Porta G, LaVecchio K, Soler-Alfonso C, Kishnani PS
JCI Insight 2024 May 14;9(12) doi: 10.1172/jci.insight.177722. PMID: 38912588Free PMC Article
Branching enzyme deficiency: expanding the clinical spectrum.
Paradas C, Akman HO, Ionete C, Lau H, Riskind PN, Jones DE, Smith TW, Hirano M, Dimauro S
JAMA Neurol 2014 Jan;71(1):41-7. doi: 10.1001/jamaneurol.2013.4888. PMID: 24248152Free PMC Article
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.
Lamperti C, Salani S, Lucchiari S, Bordoni A, Ripolone M, Fagiolari G, Fruguglietti ME, Crugnola V, Colombo C, Cappellini A, Prelle A, Bresolin N, Comi GP, Moggio M
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S161-8. Epub 2009 Apr 8 doi: 10.1007/s10545-009-1134-8. PMID: 19357989
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C
Neurology 2004 Sep 28;63(6):1053-8. doi: 10.1212/01.wnl.0000138429.11433.0d. PMID: 15452297
Liver transplantation for glycogen storage disease types I, III, and IV.
Matern D, Starzl TE, Arnaout W, Barnard J, Bynon JS, Dhawan A, Emond J, Haagsma EB, Hug G, Lachaux A, Smit GP, Chen YT
Eur J Pediatr 1999 Dec;158 Suppl 2(Suppl 2):S43-8. doi: 10.1007/pl00014320. PMID: 10603098Free PMC Article

Clinical prediction guides

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.
Koch RL, Kiely BT, Choi SJ, Jeck WR, Flores LS, Sood V, Alam S, Porta G, LaVecchio K, Soler-Alfonso C, Kishnani PS
JCI Insight 2024 May 14;9(12) doi: 10.1172/jci.insight.177722. PMID: 38912588Free PMC Article
Progress and problems in muscle glycogenoses.
DiMauro S, Spiegel R
Acta Myol 2011 Oct;30(2):96-102. PMID: 22106711Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • 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.

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...