Glycogen storage disease due to liver phosphorylase kinase deficiency

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Synonyms: GSD due to liver phosphorylase kinase deficiency | GSD type 9A | GSD type 9C | GSD type IXa | GSD type IXc | Glycogen storage disease type 9A | Glycogen storage disease type 9C | Glycogen storage disease type IXa | Glycogen storage disease type IXc | Glycogenosis due to liver phosphorylase kinase deficiency | Glycogenosis type 9A | Glycogenosis type 9C | Glycogenosis type IXa | Glycogenosis type IXc | XLG

Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly growth retardation and mild delay in motor development during childhood.

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 Data version July 2024

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Glycogen storage disease due to liver phosphorylase kinase deficiency?

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Advocacy Organizations

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.

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.