Glycogen Storage Disease Type 6

Common Name(s)

Glycogen Storage Disease Type 6

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Glycogen Storage Disease Type 6" 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: 17 Jan 2013

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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 Type 6" 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: 17 Jan 2013

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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 Type 6" returned 19 free, full-text research articles on human participants. First 3 results:

[Evaluation of a fluorimetric for determining the activity of amylo-1,6-glucosidase in leukocytes for confirming the diagnosis of glycogen storage disease type III].
 

Author(s): Hanène Miadi-Messaoud, Amira Mili, Hammadi Ben Khalifa, Khalifa Limem

Journal: Ann. Biol. Clin. (Paris). ;69(1):41-5.

 

The confirmation of type III glycogen storage disease diagnosis is based on histological explorations on to live and/or muscle biopsies that induce some problems of delay and sensitivity. The purpose of this study was to evaluate a fluorimetric technique for the determination of amylo-1,6-glucosidase ...

Last Updated: 5 Apr 2011

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A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency.
 

Author(s): Hidde H Huidekoper, Gepke Visser, Mariëtte T Ackermans, Hans P Sauerwein, Frits A Wijburg

Journal: J. Inherit. Metab. Dis.. 2010 Feb;33(1):25-31.

 

A potential role for muscle in glucose homeostasis was recently suggested based on characterization of extrahepatic and extrarenal glucose-6-phosphatase (glucose-6-phosphatase-beta). To study the role of extrahepatic tissue in glucose homeostasis during fasting glucose kinetics were ...

Last Updated: 25 Feb 2010

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Structure-function study of the glucose-6-phosphate transporter, an eukaryotic antiporter deficient in glycogen storage disease type Ib.
 

Author(s): Chi-Jiunn Pan, Shih-Yin Chen, Soojung Lee, Janice Y Chou

Journal: Mol. Genet. Metab.. 2009 Jan;96(1):32-7.

 

Glycogen storage disease type Ib is caused by deficiencies in the glucose-6-phosphate transporter (G6PT), a phosphate (P(i))-linked antiporter capable of homologous (P(i):P(i)) and heterologous (G6P:P(i)) exchanges similar to the bacterial hexose-6-phosphate transporter, UhpT. Protease ...

Last Updated: 19 Dec 2008

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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 Type 6" returned 1 free, full-text review articles on human participants. First 3 results:

Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.
 

Author(s): Janice Y Chou, Brian C Mansfield

Journal: Hum. Mutat.. 2008 Jul;29(7):921-30.

 

Glucose-6-phosphatase-alpha (G6PC) is a key enzyme in glucose homeostasis that catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the terminal step of gluconeogenesis and glycogenolysis. Mutations in the G6PC gene, located on chromosome 17q21, result in glycogen ...

Last Updated: 18 Jun 2008

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.