Glycogen storage disease due to hepatic glycogen synthase deficiency
Synonyms: GSD due to hepatic glycogen synthase deficiency | GSD type 0a | Glycogen storage disease due to liver glycogen synthase deficiency | Glycogen storage disease type 0a | Glycogenosis type 0a
A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease (GSD) characterized by fasting hypoglycemia. This is not a glycogenosis strictly speaking as the enzyme deficiency decreases glycogen reserves.
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 April 2024
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Glycogen storage disease due to hepatic glycogen synthase deficiency?
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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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.