Glycogen Storage Disease Type 3

Common Name(s)

Glycogen Storage Disease Type 3, Cori Disease

Glycogen storage disease type 3 (GSDIII) is an inherited disorder caused by the buildup of glycogen in the body's cells. This buildup impairs the function of certain organs and tissues, especially the liver and muscles. Symptoms typically begin in infancy and may include hypoglycemia, hyperlipidemia (excess of fats in the blood), and elevated blood levels of liver enzymes; later symptoms may include hepatomegaly, chronic liver disease (cirrhosis) and liver failure later in life. Some individuals have short stature and noncancerous (benign) tumors called adenomas in the liver. GSDIII is cause by mutations in the AGL gene and is inherited in an autosomal recessive manner. Treatment typically includes a high-protein diet with cornstarch supplementation to maintain a normal level of glucose in the blood. GSDIII is divided into types IIIa, IIIb, IIIc, and IIId; types IIIa and IIIc mainly affect the liver and muscles, and GSD types IIIb and IIId typically affect only the liver.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Glycogen Storage Disease Type 3" 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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Glycogen Storage Disease Type 3" 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 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 3" returned 2 free, full-text research articles on human participants. First 3 results:

Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.
 

Author(s): J Shen, Y Bao, H M Liu, P Lee, J V Leonard, Y T Chen

Journal: J. Clin. Invest.. 1996 Jul;98(2):352-7.

 

Glycogen storage disease type HI (GSD-III), an autosomal recessive disease, is caused by deficient glycogen debranching enzyme (GDE) activity. Most GSD-III patients are GDE deficient in both liver and muscle (type IIIa), and some GSD-III patients have GDE absent in liver but retained ...

Last Updated: 23 Sep 1996

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Gross cardiac involvement in glycogen storage disease type 3.
 

Author(s): C G Miller, G A Alleyne, S E Brooks

Journal: Br Heart J. 1972 Aug;34(8):862-4.

 

Last Updated: 15 Nov 1972

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

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Prospective Follow-up of Patients With Glycogen Storage Disease Type III
 

Status: Recruiting

Condition Summary: Neuromuscular Disorders

 

Last Updated: 19 Dec 2012

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Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard Versus Modified Uncooked Cornstarch
 

Status: Recruiting

Condition Summary: Glycogen Storage Disease Type IA; Glycogen Storage Disease Type IB; Glycogen Storage Disease Type III; Glycogen Storage Disease Type 0

 

Last Updated: 3 Feb 2014

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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: 17 Jan 2014

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