U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hepatic polyglucosan accumulation

MedGen UID:
1842066
•Concept ID:
C5826555
•
Finding
Synonym: Accumulation of polyglucosan bodies in the liver
 
HPO: HP:0034645

Definition

Intracellular accumulation of polyglucosan bodies-containing amylopectinlike polysaccharide-in the liver. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHepatic polyglucosan accumulation

Professional guidelines

PubMed

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS
Mol Genet Metab 2023 Mar;138(3):107525. Epub 2023 Jan 25 doi: 10.1016/j.ymgme.2023.107525. PMID: 36796138

Recent clinical studies

Etiology

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS
Mol Genet Metab 2023 Mar;138(3):107525. Epub 2023 Jan 25 doi: 10.1016/j.ymgme.2023.107525. PMID: 36796138

Diagnosis

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS
Mol Genet Metab 2023 Mar;138(3):107525. Epub 2023 Jan 25 doi: 10.1016/j.ymgme.2023.107525. PMID: 36796138
The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies.
Moses SW, Parvari R
Curr Mol Med 2002 Mar;2(2):177-88. doi: 10.2174/1566524024605815. PMID: 11949934
A new variant of type IV glycogenosis with primary cardiac manifestation and complete branching enzyme deficiency. In vivo detection by heart muscle biopsy.
Nase S, Kunze KP, Sigmund M, Schroeder JM, Shin Y, Hanrath P
Eur Heart J 1995 Nov;16(11):1698-704. doi: 10.1093/oxfordjournals.eurheartj.a060797. PMID: 8881867

Supplemental Content

Table of contents

    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.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      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...