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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

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

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
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
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

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

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
Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.
Li SC, Hwu WL, Lin JL, Bali DS, Yang C, Chu SM, Chien YH, Chou HC, Chen CY, Hsieh WS, Tsao PN, Chen YT, Lee NC
J Child Neurol 2012 Feb;27(2):204-8. Epub 2011 Sep 13 doi: 10.1177/0883073811415107. PMID: 21917543
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

Progress and problems in muscle glycogenoses.
DiMauro S, Spiegel R
Acta Myol 2011 Oct;30(2):96-102. PMID: 22106711Free PMC Article

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