Glycogen Storage Disease Type 2

Common Name(s)

Glycogen Storage Disease Type 2, Deficiency of alpha-glucosidase, Pompe Disease, Glucosidase Acid-1,4-Alpha Deficiency

Glycogen storage disease type 2, also known as Pompe disease and acid maltase deficiency disease, is an inherited metabolic disorder caused by an inborn lack of the enzyme alpha-1,4 glucosidase (lysosomal glucosidase; acid maltase), which is necessary to break down glycogen, a substance that is a source of energy for the body. This enzyme deficiency causes excess amounts of glycogen to accumulate in the lysosomes, which are structures within cells that break down waste products within the cell. This accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally.  Glycogen storage disease type 2 is a single disease continuum with variable rates of disease progression. In 2006, the U.S. Food and Drug Administration (FDA) approved the enzyme replacement therapy Myozyme as a treatment for all patients with glycogen storage disease type 2.
 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Glycogen Storage Disease Type 2" for support, advocacy or research.

Acid Maltase Deficiency Association

The Acid Maltase Deficiency Association, was formed to assist in funding research and to promote public awareness of Acid Maltase Deficiency, also known as Pompe Disease.

Last Updated: 9 Nov 2012

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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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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.

Last Updated: 8 Mar 2010

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United Pompe Foundation

The United Pompe Foundation was formed to assist patients and/or their families with medical costs and other expenses that these patients and families face and may not be able to cover, or fully cover, through their insurance. Another very important issue we all face is raising the public awareness of Pompe disease. As we are all aware there is very little public awareness of this devastating disease. The committee is comprised of Pompe patients and parents of Pompe patients so that we have a good understanding of the many problems those families must deal with on a daily basis. We hope to be a valuable resource that patients can turn to if they need help. If you have any questions, comments, or would like to help please contact us.

Last Updated: 12 Dec 2012

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Glycogen Storage Disease Type 2" for support, advocacy or research.

Acid Maltase Deficiency Association

The Acid Maltase Deficiency Association, was formed to assist in funding research and to promote public awareness of Acid Maltase Deficiency, also known as Pompe Disease.

http://www.amda-pompe.org

Last Updated: 9 Nov 2012

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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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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

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United Pompe Foundation

The United Pompe Foundation was formed to assist patients and/or their families with medical costs and other expenses that these patients and families face and may not be able to cover, or fully cover, through their insurance. Another very important issue we all face is raising the public awareness of Pompe disease. As we are all aware there is very little public awareness of this devastating disease. The committee is comprised of Pompe patients and parents of Pompe patients so that we have a good understanding of the many problems those families must deal with on a daily basis. We hope to be a valuable resource that patients can turn to if they need help. If you have any questions, comments, or would like to help please contact us.

http://www.unitedpompe.com

Last Updated: 12 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 Type 2" returned 1 free, full-text research articles on human participants. First 3 results:

A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0.
 

Author(s): Ana Priscila Soggia, Maria LĂșcia Correa-Giannella, Maria Angela Henriques Fortes, Ana Mercedes Cavaleiro Luna, Maria Adelaide Albergaria Pereira

Journal:

 

Glycogen storage disease type 0 is an autosomal recessive disease presenting in infancy or early childhood and characterized by ketotic hypoglycemia after prolonged fasting and postprandial hyperglycemia and hyperlactatemia. Sixteen different mutations have been identified to date ...

Last Updated: 12 Mar 2010

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

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Patients With Infantile-Onset Pompe Disease Who Have Never Been Treated
 

Status: Recruiting

Condition Summary: Pompe Disease (Infantile-Onset); Glycogen Storage Disease Type II (GSD II); Glycogenosis 2; Acid Maltase Deficiency

 

Last Updated: 11 Aug 2014

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Pompe Pregnancy Sub-Registry
 

Status: Recruiting

Condition Summary: Glycogen Storage Disease Type II (GSD-II); Pompe Disease (Late-onset); Glycogenesis 2 Acid Maltase Deficiency

 

Last Updated: 10 Sep 2013

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Immune Tolerance Induction Study
 

Status: Recruiting

Condition Summary: Pompe Disease; Glycogen Storage Disease Type II (GSD-II); Glycogenesis 2 Acid Maltase Deficiency

 

Last Updated: 3 Mar 2014

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