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, childhood combined hepatic and myopathic form

MedGen UID:
1842442
•Concept ID:
C5679969
•
Disease or Syndrome
Synonyms: GBE deficiency, childhood combined hepatic and myopathic form; glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form; Glycogen storage disease type 4, childhood combined hepatic and myopathic form; glycogen storage disease type 4, childhood combined hepatic and myopathic form; Glycogen storage disease type IV, childhood combined hepatic and myopathic form; glycogen storage disease type IV, childhood combined hepatic and myopathic form; Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form; glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form; Glycogenosis type 4, childhood combined hepatic and myopathic form; glycogenosis type 4, childhood combined hepatic and myopathic form; Glycogenosis type IV, childhood combined hepatic and myopathic form; glycogenosis type IV, childhood combined hepatic and myopathic form; GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form; GSD type 4, childhood combined hepatic and myopathic form; GSDIV, childhood combined hepatic and myopathic form
 
Monarch Initiative: MONDO:0017699
Orphanet: ORPHA308684

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGlycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

Recent clinical studies

Prognosis

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

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...