Glycogen Storage Disease Type VII definition

Glycogen Storage Disease Type VII
Deficiency, Muscle Phosphofructokinase; Muscle Phosphofructokinase Deficiency; Tarui's Disease; Deficiencies, Muscle Phosphofructokinase; Disease, Tarui; Disease, Tarui's; Muscle Phosphofructokinase Deficiencies
An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.