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

Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function.
 

Author(s): Daniela Melis, Fortunata Carbone, Giorgia Minopoli, Claudia La Rocca, Francesco Perna, Veronica De Rosa, Mario Galgani, Generoso Andria, Giancarlo Parenti, Giuseppe Matarese

Journal: J. Immunol.. 2017 May;198(10):3803-3808.

 

Glycogen storage disease type 1b (GSD-1b) is an autosomal-recessive disease caused by mutation of glucose-6-phosphate transporter and characterized by altered glycogen/glucose homeostasis. A higher frequency of autoimmune diseases has been observed in GSD-1b patients, but the molecular ...

Last Updated: 8 Apr 2017

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Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.
 

Author(s): Rihwa Choi, Hyung Doo Park, Jung Min Ko, Jeongho Lee, Dong Hwan Lee, Suk Jin Hong, Chang Seok Ki, Soo Youn Lee, Jong Won Kim, Junghan Song, Yon Ho Choe

Journal: Ann Lab Med. 2017 May;37(3):261-266.

 

Molecular techniques are fundamental for establishing an accurate diagnosis and therapeutic approach of glycogen storage diseases (GSDs). We aimed to evaluate SLC37A4 mutation spectrum in Korean GSD Ib patients.

Last Updated: 22 Feb 2017

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Evaluation of central nervous system in patients with glycogen storage disease type 1a.
 

Author(s): Yusuf Aydemir, Figen Gürakan, İnci Nur Saltık Temizel, Hülya Demir, Kader Karlı Oğuz, Dilek Yalnızoğlu, Meral Topçu, Hasan Özen, Aysel Yüce

Journal: Turk. J. Pediatr.. 2016 ;58(1):12-18.

 

We aimed to evaluate structure and functions of central nervous system (CNS) in children with glycogen storage disease (GSD) type 1a. Neurological examination, psychometric tests, electroencephalography (EEG), magnetic resonance imaging (MRI), visual evoked potentials (VEP) and brainstem ...

Last Updated: 6 Dec 2016

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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:

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: 3 May 2016

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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: 15 May 2015

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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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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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Glycogen Storage Disease Type IV Database
 

Status: Recruiting

Condition Summary: Glycogen Storage Disease Type IV

 

Last Updated: 1 Dec 2016

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Acute Nutritional Ketosis in GSD IIIa
 

Status: Recruiting

Condition Summary: Glycogen Storage Disease IIIA

 

Last Updated: 15 Feb 2017

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