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:

Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity.
 

Author(s): Daniela Melis, Roberto Della Casa, Francesca Balivo, Giorgia Minopoli, Alessandro Rossi, Mariacarolina Salerno, Generoso Andria, Giancarlo Parenti

Journal:

 

Glycogen storage disease type 1b (GSD1b) is an inherited metabolic defect of glycogenolysis and gluconeogenesis due to mutations of the SLC37A4 gene and to defective transport of glucose-6-phosphate. The clinical presentation of GSD1b is characterized by hepatomegaly, failure to thrive, ...

Last Updated: 8 Apr 2014

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[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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The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia.
 

Author(s): Young Mok Lee, Chi-Jiunn Pan, Dwight D Koeberl, Brian C Mansfield, Janice Y Chou

Journal: Mol. Genet. Metab.. 2013 Nov;110(3):275-80.

 

Glycogen storage disease type-Ia (GSD-Ia) patients deficient in glucose-6-phosphatase-α (G6Pase-α or G6PC) manifest impaired glucose homeostasis characterized by fasting hypoglycemia, growth retardation, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia. ...

Last Updated: 16 Oct 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 14 free, full-text review articles on human participants. First 3 results:

Liver transplantation in glycogen storage disease type I.
 

Author(s): Susanna J B Boers, Gepke Visser, Peter G P A Smit, Sabine A Fuchs

Journal:

 

Glycogen storage disease type I (GSDI), an inborn error of carbohydrate metabolism, is caused by defects in the glucose-6-transporter/glucose-6-phosphatase complex, which is essential in glucose homeostasis. Two types exist, GSDIa and GSDIb, each caused by different defects in the ...

Last Updated: 3 Jun 2014

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Glycogen storage disease type 1 and diabetes: learning by comparing and contrasting the two disorders.
 

Author(s): F Rajas, P Labrune, G Mithieux

Journal: Diabetes Metab.. 2013 Oct;39(5):377-87.

 

Glycogen storage disease type 1 (GSD1) and diabetes may look at first like totally opposite disorders, as diabetes is characterized by uncontrolled hyperglycaemia, whereas GSD1 is characterized by severe fasting hypoglycaemia. Diabetes is due to a failure to suppress endogenous glucose ...

Last Updated: 22 Oct 2013

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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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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 Glycogen Storage Disease Expression in Carriers
 

Status: Recruiting

Condition Summary: Glycogen Storage Disease

 

Last Updated: 10 Dec 2014

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Overnight Feeding Study in Glycogen Storage Disease Type 1
 

Status: Recruiting

Condition Summary: Glycogen Storage Disease Type 1 (GSD 1)

 

Last Updated: 4 Dec 2014

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