Glycogen Storage Disease Type 1A

Common Name(s)

Glycogen Storage Disease Type 1A, Von Gierke Disease

Glycogen storage disease type 1 is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. Researchers have described two types of glycogen storage disease type 1, which differ in their signs and symptoms and genetic cause. These types are known as glycogen storage disease type IA and glycogen storage disease type IB.

Glycogen storage disease type 1A is characterized by growth retardation leading to short stature and accumulation of glycogen and fat in the liver and kidneys. Although some newborns present with severe hypoglycemia, it is more common for infants to present at age three to four months with hepatomegaly, lactic acidosis, hyperuricemia, hyperlipidemia, and/or hypoglycemic seizures. Untreated children typically have doll-like faces with fat cheeks and relatively thin extremities. Xanthoma and diarrhea may be present. Impaired platelet function can lead to a bleeding tendency, making epistaxis a frequent problem. Glycogen storage disease type 1A is caused by the deficiency of glucose-6-phosphatase (G6Pase) catalytic activity which results from mutations in the G6PC gene. This condition is inherited in an autosomal recessive pattern.  

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Glycogen Storage Disease Type 1A" 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

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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 1A" 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

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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 1A" returned 12 free, full-text research articles on human participants. First 3 results:

Discussion regarding the method of screening for hepatocellular carcinoma in glycogen storage disease type 1a.
 

Author(s): Hironori Ochi, Atsushi Hiraoka, Kojiro Michitaka

Journal: Intern. Med.. 2012 ;51(13):1813.

 

Last Updated: 13 Jul 2012

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Challenges in screening for hepatocellular carcinoma in the glycogen storage disease type 1a population.
 

Author(s): Mustafa R Bashir, Elmar M Merkle, Priya S Kishnani

Journal: Intern. Med.. 2012 ;51(13):1811.

 

Last Updated: 13 Jul 2012

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Abdominal imaging findings of a patient with hepatocellular carcinoma associated with glycogen storage disease type 1a.
 

Author(s): Hironori Ochi, Atsushi Hiraoka, Takahide Uehara, Satoshi Hidaka, Hideki Kawasaki, Keizou Furuya, Masashi Hirooka, Masanori Abe, Bunzo Matsuura, Yoichi Hiasa, Morikazu Onji, Kojiro Michitaka

Journal: Intern. Med.. 2011 ;50(20):2317-22.

 

A hepatic tumor was found in a 57-year-old man with glycogen storage disease type 1a (GSD1a) with a mutation in exon 5 of the glucose-6-phosphatase gene (G727T). Partial hepatectomy was performed, and the tumor was histologically diagnosed as moderately differentiated hepatocellular ...

Last Updated: 17 Oct 2011

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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 1A" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.