Tarui disease (GSD type VII): management
Evidence-based neurology checklist on tarui disease (gsd type vii): management: Blood tests Haemolytic anaemia Reticulocytosis Hyperuricemia Creatinine kinase (CK): this is elevated PFK activity: this is reduced Serum bilirubin: this is elevated Other tests Muscle biopsy Physical management Other…
Blood tests
- Haemolytic anaemia
- Reticulocytosis
- Hyperuricemia
- Creatinine kinase (CK): this is elevated
- PFK activity: this is reduced
- Serum bilirubin: this is elevated
Other tests
Muscle biopsy
Physical management
Other management issues
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.
- 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.
