Glycogen storage disease due to muscle phosphofructokinase deficiency
Synonyms: GSD due to muscle phosphofructokinase deficiency | GSD type 7 | GSD type VII | Glycogen storage disease type 7 | Glycogen storage disease type VII | Glycogenosis due to muscle phosphofructokinase deficiency | Glycogenosis type 7 | Glycogenosis type VII | Tarui disease
Muscle phosphofructokinase (PFK) deficiency (Tarui’s disease) or glycogen storage disease type 7 (GSD7) is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in 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 http://www.orphadata.org. Data version April 2024
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Glycogen storage disease due to muscle phosphofructokinase deficiency?
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Advocacy Organizations
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Clinical Trials
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