Glycogen storage disease due to glucose-6-phosphatase deficiency

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Glycogen storage disease due to glucose-6-phosphatase deficiency

Synonyms: G6P deficiency | GSD due to G6P deficiency | GSD type 1 | GSD type I | Glycogen storage disease due to G6P deficiency | Glycogen storage disease type 1 | Glycogen storage disease type I | Glycogenosis type 1 | Glycogenosis type I | Hepatorenal glycogenosis | Von Gierke disease

Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease (GSD) type 1 is a group of inherited metabolic diseases including types a and b (see these terms) and characterized by poor tolerance to fasting growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Advocacy Organizations

association for glycogen storage disease

The Association for Glycogen Storage Disease (AGSD) is a patient advocacy organization dedicated to protecting and promoting the best interest of all persons affected by the glycogen storage disease. • AGSD is committed to the identification, treatment, and cure of glycogen storage disease through programs of education, advocacy, research, and patient services.

association for glycogen storage disease

The Association for Glycogen Storage Disease (AGSD) is a patient advocacy organization dedicated to protecting and promoting the best interest of all persons affected by the glycogen storage disease. • AGSD is committed to the identification, treatment, and cure of glycogen storage disease through programs of education, advocacy, research, and patient services.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.