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
A rare inherited metabolic disease (comprising two major subtypes: type Ia and Ib) characterized by poor tolerance to fasting growth delay 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 March 2026
Newly diagnosed with
Glycogen storage disease due to glucose-6-phosphatase deficiency?
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Advocacy Organizations
Biliary Atresia and Liver Care Africa
Biliary Atresia and Liver Care Africa (BALCA) exists to raise awareness, support families, and advocate for better care for children and individuals living with biliary atresia and other liver diseases across East Africa, giving hope, information, and a strong support system while improving access to treatment and aftercare.
Global Liver Institute
To improve the lives of individuals and families impacted by liver disease through promoting innovation, encouraging collaboration, and scaling optimal approaches to help eradicate liver diseases.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
Sophie’s Hope Foundation, Inc
Sophie’s Hope Foundation’s mission is to help find a cure for GSD 1b. We believe we can accomplish this by funding research and by coordinating the collaboration of patients, caregivers, doctors, researchers, and drug companies.
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.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.