Tarui disease (GSD type VII): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Tarui disease (GSD type VII): clinical features. This is caused by mutations in the PFKM gene on chromosome 12q. Fully referenced neurology checklist.
Genetics and pathology
- This is caused by mutations in the PFKM gene on chromosome 12q
- It results in muscle phosphofructokinase (PFK) deficiency
- It is most frequent in Ashkenazi Jews
Types
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Exercise-induced features
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Other neurological features
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Infantile onset features
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Systemic features
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References
- DiMauro S, Spiegel R. Progress and problems in muscle glycogenoses. Acta Myol 2011; 30:96-102.
- Musumeci O, Bruno C, Mongini T, et al. Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). Neuromuscul Disord 2012; 22:325-330.
- Toscano A, Musumeci O. Tarui disease and distal glycogenoses: clinical and genetic update. Acta Myol 2007; 26:105-107.
- Nakajima H, Raben N, Hamaguchi T, et al. Phosphofructokinase deficiency; past, present and future. Curr Molecular Med 2002; 2:197-212.
- Lucia A, Martinuzzi A, Nogales-Gadea Get al. Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group. Neuromuscul Disord 2021; 31:1296-1310.
