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 191 free, full-text research articles on human participants. First 3 results:

A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.
 

Author(s): Isabelle Rousseau-Nepton, Minoru Okubo, Rosemarie Grabs, , John Mitchell, Constantin Polychronakos, Celia Rodd

Journal: CMAJ. 2015 Feb;187(2):E68-73.

 

Glycogen storage disease type III is caused by mutations in both alleles of the AGL gene, which leads to reduced activity of glycogen-debranching enzyme. The clinical picture encompasses hypoglycemia, with glycogen accumulation leading to hepatomegaly and muscle involvement (skeletal ...

Last Updated: 3 Feb 2015

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Reproducibility and absolute quantification of muscle glycogen in patients with glycogen storage disease by 13C NMR spectroscopy at 7 Tesla.
 

Author(s): Katja Heinicke, Ivan E Dimitrov, Nadine Romain, Sergey Cheshkov, Jimin Ren, Craig R Malloy, Ronald G Haller

Journal:

 

Carbon-13 magnetic resonance spectroscopy (13C MRS) offers a noninvasive method to assess glycogen levels in skeletal muscle and to identify excess glycogen accumulation in patients with glycogen storage disease (GSD). Despite the clinical potential of the method, it is currently ...

Last Updated: 9 Oct 2014

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A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
 

Author(s): Edoardo Malfatti, Johanna Nilsson, Carola Hedberg-Oldfors, Aurelio Hernandez-Lain, Fabrice Michel, Cristina Dominguez-Gonzalez, Gabriel Viennet, H Orhan Akman, Cornelia Kornblum, Peter Van den Bergh, Norma B Romero, Andrew G Engel, Salvatore DiMauro, Anders Oldfors

Journal: Ann. Neurol.. 2014 Dec;76(6):891-8.

 

We describe a slowly progressive myopathy in 7 unrelated adult patients with storage of polyglucosan in muscle fibers. Genetic investigation revealed homozygous or compound heterozygous deleterious variants in the glycogenin-1 gene (GYG1). Most patients showed depletion of glycogenin-1 ...

Last Updated: 26 Nov 2014

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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 15 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

Biomarker for Glycogen Storage Diseases
 

Status: Recruiting

Condition Summary: Fructose Metabolism, Inborn Errors; Glycogen Storage Disease; Glycogen Storage Disease Type I; Glycogen Storage Disease Type II; Glycogen Storage Disease Type III; Glycogen Storage Disease Type IV; Glycogen Storage Disease Type V; Glycogen Storage Disease Type VI; Glycogen Storage Disease Type VII; Glycogen Storage Disease Type VIII

 

Last Updated: 12 Jun 2015

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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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The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V)
 

Status: Recruiting

Condition Summary: Glycogen Storage Disease Type V

 

Last Updated: 1 May 2015

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