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

Evaluation of central nervous system in patients with glycogen storage disease type 1a.
 

Author(s): Yusuf Aydemir, Figen Gürakan, İnci Nur Saltık Temizel, Hülya Demir, Kader Karlı Oğuz, Dilek Yalnızoğlu, Meral Topçu, Hasan Özen, Aysel Yüce

Journal: Turk. J. Pediatr.. 2016 ;58(1):12-18.

 

We aimed to evaluate structure and functions of central nervous system (CNS) in children with glycogen storage disease (GSD) type 1a. Neurological examination, psychometric tests, electroencephalography (EEG), magnetic resonance imaging (MRI), visual evoked potentials (VEP) and brainstem ...

Last Updated: 6 Dec 2016

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Hepatic lentiviral gene transfer prevents the long-term onset of hepatic tumours of glycogen storage disease type 1a in mice.
 

Author(s): Julie Clar, Elodie Mutel, Blandine Gri, Alison Creneguy, Anne Stefanutti, Sophie Gaillard, Nicolas Ferry, Olivier Beuf, Gilles Mithieux, Tuan Huy Nguyen, Fabienne Rajas

Journal: Hum. Mol. Genet.. 2015 Apr;24(8):2287-96.

 

Glycogen storage disease type 1a (GSD1a) is a rare disease due to the deficiency in the glucose-6-phosphatase (G6Pase) catalytic subunit (encoded by G6pc), which is essential for endogenous glucose production. Despite strict diet control to maintain blood glucose, patients with GSD1a ...

Last Updated: 20 Mar 2015

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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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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 1 free, full-text review articles on human participants. First 3 results:

Lessons from new mouse models of glycogen storage disease type 1a in relation to the time course and organ specificity of the disease.
 

Author(s): Fabienne Rajas, Julie Clar, Amandine Gautier-Stein, Gilles Mithieux

Journal: J. Inherit. Metab. Dis.. 2015 May;38(3):521-7.

 

Patients with glycogen storage diseases type 1 (GSD1) suffer from life-threatening hypoglycaemia, when left untreated. Despite an intensive dietary treatment, patients develop severe complications, such as liver tumors and renal failure, with aging. Until now, the animal models available ...

Last Updated: 15 May 2015

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There are currently no open clinical trials for this condition.