/glycogen storage disease VII

glycogen storage disease VII

Rare Disease

MONDO:0009295

Also Known As

GSD due to muscle phosphofructokinase deficiencyGSD type 7GSD type VIIGSDVIIGlycogen Storage Disease Type 7PFKM glycogen storage diseaseTarui diseaseglycogen storage disease VIIglycogen storage disease caused by mutation in PFKMglycogen storage disease type 7glycogen storage disease type VIIglycogen storage disease, type VIIglycogenosis due to muscle phosphofructokinase deficiencyglycogenosis type 7glycogenosis type VIIphosphofructokinase deficiencyphosphofructokinase myopathyGSD 7GSD7Pfkm deficiencyglycogen storage disease 7glycogen storage disease due to muscle phosphofructokinase deficiencymuscle phosphofructokinase deficiency

Definition

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.