Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

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Synonyms: GSD due to liver and muscle phosphorylase kinase deficiency | GSD type 9B | GSD type IXb | Glycogen storage disease type 9B | Glycogen storage disease type IXb | Glycogenosis due to liver and muscle phosphorylase kinase deficiency | Glycogenosis type 9B | Glycogenosis type IXb

A benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency.

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 June 2024

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Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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

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