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

MedGen UID:
343524
•Concept ID:
C1856305
•
Disease or Syndrome
Synonyms: Glycogen storage disease IV, childhood neuromuscular; GSD IV, NEUROMUSCULAR FORM, CHILDHOOD
 
Monarch Initiative: MONDO:0017700
OMIM®: 232500
Orphanet: ORPHA308698

Term Hierarchy

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

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
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

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

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
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

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

Supplemental Content

Table of contents

    Clinical resources

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    Reviews

    Related information

    • ClinVar
      Related medical variations
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PubMed
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    • PubMed (OMIM)
      Related literature resources in PubMed

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