Glycogen Storage Disease Type VII
Synonyms
Deficiencies, Muscle Phosphofructokinase
Deficiencies, Pfkm
Deficiency, Muscle Phosphofructokinase
Deficiency, Pfkm
Disease, Tarui
Disease, Tarui's
GSD VII
Glycogen Storage Disease VII
Glycogenosis 7
Muscle Phosphofructokinase Deficiencies
Muscle Phosphofructokinase Deficiency
Pfkm Deficiencies
Pfkm Deficiency
Phosphofructokinase Deficiencies, Muscle
Phosphofructokinase Deficiency, Muscle
Tarui Disease
Tarui's Disease
Taruis Disease
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.