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.

Last Updated: 30 Apr 2014

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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: 30 Apr 2014

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

General Resources

Updated 9 Oct 2012

Go To URL
 
 
Top

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

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

Go To URL
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

Go To URL
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

Go To URL

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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
Top

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: 25 Aug 2016

Go to URL