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

[Clinical characteristics and gene mutation analysis of one pedigree with infantile glycogen storage disease type II].
 

Author(s): Lei Zhang, Xiao-Heng Xu, Ji Wang, Si-Jin Zhang

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2015 Nov;17(11):1228-31.

 

The clinical data of 2 infants with infantile glycogen storage disease type II (GSD II) from one pedigree were collected. The method of dried blood spots (DBS) was applied to collect peripheral blood samples, and the activity of acid alpha-D-glucosidase (GAA) in leukocytes was measured. ...

Last Updated: 20 Nov 2015

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Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation.
 

Author(s): Daniela Melis, Alessandro Rossi, Rosario Pivonello, Mariacarolina Salerno, Francesca Balivo, Simona Spadarella, Giovanna Muscogiuri, Roberto Della Casa, Pietro Formisano, Generoso Andria, Annamaria Colao, Giancarlo Parenti

Journal:

 

In GSDIa, glucose 6-phosphate (G6P) accumulates in the endoplasmic reticulum (ER); in GSDIb, G6P levels are reduced in ER. G6P availability directly modulates the activity of 11β-hydroxysteroid dehydrogenase type 1 (11βHSD1), an ER-bound enzyme playing a key role in the development ...

Last Updated: 29 Jul 2015

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A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: a randomized double-blind cross-over study.
 

Author(s): Kaustuv Bhattacharya, Helen Mundy, Maggie F Lilburn, Michael P Champion, David W Morley, François Maillot

Journal:

 

Uncooked corn-starch (UCCS) has been the mainstay of therapy for the hepatic glycogen storage diseases (GSD) but is not always effective. A new starch (WMHMS) has demonstrated a more favourable short-term metabolic profile.

Last Updated: 18 Apr 2015

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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 Genetics Home Reference.

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: 13 Jan 2016

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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: 28 Oct 2015

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Glycogen Storage Disease Type IV Database
 

Status: Recruiting

Condition Summary: Glycogen Storage Disease Type IV

 

Last Updated: 16 Feb 2016

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