Tarui disease (GSD type VII): clinical features
Evidence-based neurology checklist on tarui disease (gsd type vii): clinical features: 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 Exercise-induced…
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
Exercise-induced features
Other neurological features
Infantile onset features
Systemic features
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.
