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:

Diabetes mellitus in a patient with glycogen storage disease type Ia: a case report.
 

Author(s): Aviva Cohn, Anupam Ohri

Journal:

 

Glycogen storage disease type Ia is a genetic disorder that is associated with persistent fasting hypoglycemia and the inability to produce endogenous glucose. The development of diabetes with glycogen storage disease is exceedingly rare. The underlying pathogenesis for developing ...

Last Updated: 31 Dec 1969

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[Clinical characteristics and GAA gene mutation in children with glycogen storage disease type II: an analysis of 3 cases].
 

Author(s): Shan Yuan, Jie Jiang, Lu-Ting Zha, Zuo-Cheng Yang

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2017 Oct;19(10):1092-1097.

 

Glycogen storage disease type II (GSD II) is an autosomal recessive disorder caused by a deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA) and can affect multiple systems including the heart and skeletal muscle. The aim of this study was to investigate ...

Last Updated: 31 Dec 1969

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Liver-directed gene therapy for murine glycogen storage disease type Ib.
 

Author(s): Joon Hyun Kwon, Young Mok Lee, Jun-Ho Cho, Goo-Young Kim, Javier Anduaga, Matthew F Starost, Brian C Mansfield, Janice Y Chou

Journal: Hum. Mol. Genet.. 2017 11;26(22):4395-4405.

 

Glycogen storage disease type-Ib (GSD-Ib), deficient in the glucose-6-phosphate transporter (G6PT), is characterized by impaired glucose homeostasis, myeloid dysfunction, and long-term risk of hepatocellular adenoma (HCA). We examined the efficacy of G6PT gene therapy in G6pt-/- mice ...

Last Updated: 31 Dec 1969

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

Is Type 2 Diabetes a Glycogen Storage Disease of Pancreatic β Cells?
 

Author(s): Frances M Ashcroft, Maria Rohm, Anne Clark, Melissa F Brereton

Journal: Cell Metab.. 2017 Jul;26(1):17-23.

 

Elevated plasma glucose leads to pancreatic β cell dysfunction and death in type 2 diabetes. Glycogen accumulation, due to impaired metabolism, contributes to this "glucotoxicity" via dysregulated biochemical pathways promoting β cell dysfunction. Here, we review emerging data, ...

Last Updated: 31 Dec 1969

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Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review.
 

Author(s): Bingqing Zhang, Xuejun Zeng

Journal: Clin. Rheumatol.. 2016 Nov;35(11):2851-2856.

 

A young female with recurrent tophaceous gout and infertility presented to our clinic. On clinical evaluation, hypoglycaemia, hypertriglyceridaemia, lactic acidosis, and hepatomegaly were noted. Targeted gene sequencing revealed a novel composite heterozygous c.190G>T/c.508C>T mutation ...

Last Updated: 31 Dec 1969

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Lessons from new mouse models of glycogen storage disease type 1a in relation to the time course and organ specificity of the disease.
 

Author(s): Fabienne Rajas, Julie Clar, Amandine Gautier-Stein, Gilles Mithieux

Journal: J. Inherit. Metab. Dis.. 2015 May;38(3):521-7.

 

Patients with glycogen storage diseases type 1 (GSD1) suffer from life-threatening hypoglycaemia, when left untreated. Despite an intensive dietary treatment, patients develop severe complications, such as liver tumors and renal failure, with aging. Until now, the animal models available ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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: 31 Aug 2017

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Study of ORL-1G in Patients With Glycogen Storage Disease Type 14
 

Status: Recruiting

Condition Summary: Glycogen Storage Disease, Type 14

 

Last Updated: 13 Jan 2018

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Glycogen Storage Disease Type IV Database
 

Status: Recruiting

Condition Summary: Glycogen Storage Disease Type IV

 

Last Updated: 4 Dec 2017

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