Glycogen Storage Disease

Common Name(s)

Glycogen Storage Disease

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Glycogen Storage Disease" for support, advocacy or research.

Association for Glycogen Storage Disease

The purpose of the Association for Glycogen Storage Disease shall be to protect and promote the best interests of all persons and families affected by Glycogen Storage Disease [GSD]; to promote the establishment, improvement, and management of facilities for the treatment, study, education, shelter, recreation, recuperation and other general benefit to GSD-affected persons; to act as a vehicle of communication on GSD-related matters to patients, families, professionals, and the public; and to act as a focus for scientific, educational, and charitable activities related to the disease.

Last Updated: 30 Apr 2014

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Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Glycogen Storage Disease" for support, advocacy or research.

Association for Glycogen Storage Disease

The purpose of the Association for Glycogen Storage Disease shall be to protect and promote the best interests of all persons and families affected by Glycogen Storage Disease [GSD]; to promote the establishment, improvement, and management of facilities for the treatment, study, education, shelter, recreation, recuperation and other general benefit to GSD-affected persons; to act as a vehicle of communication on GSD-related matters to patients, families, professionals, and the public; and to act as a focus for scientific, educational, and charitable activities related to the disease.

http://www.agsdus.org

Last Updated: 30 Apr 2014

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Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

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General Support Organizations

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General Resources

Updated 9 Oct 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Glycogen Storage Disease" returned 188 free, full-text research articles on human participants. First 3 results:

[Gene mutations and clinical manifestations in children with glycogen storage disease type Ib].
 

Author(s): Cui-Li Liang, Li Liu, Hui-Ying Sheng, Min-Yan Jiang, Xi Yin, Hui-Fen Mei, Jing Cheng, Wen Zhang, Li-Ping Fan

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2013 Aug;15(8):661-5.

 

Glycogen storage disease type Ib (GSDIb) is caused by a deficiency of glucose-6-phosphate translocase (G6PT) activity due to SLC37A4 gene mutations. Most GSDIb patients have recurrent infections and inflammatory bowel disease, with poor prognosis. Detection of SLC37A4 gene mutations ...

Last Updated: 22 Aug 2013

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Aggressive therapy improves cirrhosis in glycogen storage disease type IX.
 

Author(s): Laurie A Tsilianidis, Laurie M Fiske, Sara Siegel, Chris Lumpkin, Kate Hoyt, Melissa Wasserstein, David A Weinstein

Journal: Mol. Genet. Metab.. 2013 Jun;109(2):179-82.

 

Glycogen storage disease type IX (GSD IX) is described as a benign condition that often does not require treatment. Most patients with the disease are thought to outgrow the childhood manifestations, which include hepatomegaly, poor growth, and ketosis with or without hypoglycemia. ...

Last Updated: 3 Jun 2013

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Detection of a novel mutation in the GAA gene in an Iranian child with glycogen storage disease type II.
 

Author(s): Hamid Galehdari, Mozhgan Emami, Gholamreza Mohammadian, Ali Khodadadi, Somayeh Azmoon, Masumeh Baradaran

Journal: Arch Iran Med. 2013 Feb;16(2):126-8.

 

Glycogen storage disease II (GSDII or Pompe disease, OMIM # 232300) is an autosomal recessive hereditary lysosomal disorder. Mutations in the GAA gene usually lead to reduced acid α-glucosidase (acid maltase, GAA, OMIM *606800, EC 3.1.26.2) activity, which results in impaired degradation ...

Last Updated: 30 Jan 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Glycogen Storage Disease" returned 12 free, full-text review articles on human participants. First 3 results:

Glycogen storage disease type Ia in canines: a model for human metabolic and genetic liver disease.
 

Author(s): Andrew Specht, Laurie Fiske, Kirsten Erger, Travis Cossette, John Verstegen, Martha Campbell-Thompson, Maggie B Struck, Young Mok Lee, Janice Y Chou, Barry J Byrne, Catherine E Correia, Cathryn S Mah, David A Weinstein, Thomas J Conlon

Journal: J. Biomed. Biotechnol.. 2011 ;2011():646257.

 

A canine model of Glycogen storage disease type Ia (GSDIa) is described. Affected dogs are homozygous for a previously described M121I mutation resulting in a deficiency of glucose-6-phosphatase-α. Metabolic, clinicopathologic, pathologic, and clinical manifestations of GSDIa observed ...

Last Updated: 14 Feb 2011

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Cell death and stress signaling in glycogen storage disease type I.
 

Author(s): So Youn Kim, Yun Soo Bae

Journal: Mol. Cells. 2009 Sep;28(3):139-48.

 

Cell death has been traditionally classified in apoptosis and necrosis. Apoptosis, known as programmed cell death, is an active form of cell death mechanism that is tightly regulated by multiple cellular signaling pathways and requires ATP for its appropriate process. Apoptotic death ...

Last Updated: 4 Apr 2011

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Neutropenia in type Ib glycogen storage disease.
 

Author(s): Janice Y Chou, Hyun S Jun, Brian C Mansfield

Journal: Curr. Opin. Hematol.. 2010 Jan;17(1):36-42.

 

Glycogen storage disease type Ib, characterized by disturbed glucose homeostasis, neutropenia, and neutrophil dysfunction, is caused by a deficiency in a ubiquitously expressed glucose-6-phosphate transporter (G6PT). G6PT translocates glucose-6-phosphate (G6P) from the cytoplasm into ...

Last Updated: 9 Dec 2009

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard Versus Modified Uncooked Cornstarch
 

Status: Recruiting

Condition Summary: Glycogen Storage Disease Type IA; Glycogen Storage Disease Type IB; Glycogen Storage Disease Type III; Glycogen Storage Disease Type 0

 

Last Updated: 3 Feb 2014

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Study of the Relationship Between Glycogen Storage Disease Type Ia and Inflammatory Bowel Disease
 

Status: Recruiting

Condition Summary: Inflammatory Bowel Disease; Glycogen Storage Disease Type Ia

 

Last Updated: 30 May 2014

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Study of Glycogen Storage Disease Expression in Carriers
 

Status: Recruiting

Condition Summary: Glycogen Storage Disease

 

Last Updated: 22 Aug 2014

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