Glycogen Storage Disease Type 5

Common Name(s)

Glycogen Storage Disease Type 5, McArdle Disease

Glycogen storage disease type 5 is a genetic disorder that prevents the body from breaking down glycogen. Glycogen is an important source of energy that is stored in muscle tissue. Signs and symptoms may include burgundy-colored urine, fatigue, exercise intolerance, muscle cramps, muscle pain, muscle stiffness, and muscle weakness. Symptoms tend to begin in early adulthood (20s-30s). It is caused by mutations in the PYGM gene and is inherited in an autosomal recessive fashion.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Glycogen Storage Disease Type 5" 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

View Details
Logo
Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

http://www.mdausa.org

Last Updated: 8 Mar 2010

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 5" 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

View Details
Logo
Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

http://www.mdausa.org

Last Updated: 8 Mar 2010

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 5" returned 1 free, full-text research articles on human participants. First 3 results:

Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan.
 

Author(s): S Kajihara, S Matsuhashi, K Yamamoto, K Kido, K Tsuji, A Tanae, S Fujiyama, T Itoh, K Tanigawa, M Uchida

Journal: Am. J. Hum. Genet.. 1995 Sep;57(3):549-55.

 

Glycogen storage disease (GSD) type 1a (von Gierke disease) is an autosomal recessive disorder caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase). We have identified a novel mutation in the G6Pase gene of a individual with GSD type 1a. The cDNA from the patient's ...

Last Updated: 12 Oct 1995

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 5" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.