Glycogen storage disease VII
Glycogen storage disease VII
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.
Also known as glycogen storage disease caused by mutation in PFKM, Glycogen Storage Disease Type 7, glycogen storage disease type VII, glycogen storage disease VII, glycogenosis due to muscle phosphofructokinase deficiency, glycogenosis type 7, glycogenosis type VII, GSD due to muscle phosphofructokinase deficiency, GSD type 7, GSD type VII, GSDVII, PFKM glycogen storage disease, phosphofructokinase deficiency, Tarui disease — per MONDO