Glycogen Storage Disease Type VII


Deficiencies, Muscle Phosphofructokinase

Deficiencies, Pfkm

Deficiency, Muscle Phosphofructokinase

Deficiency, Pfkm

Disease, Tarui

Disease, Tarui's


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.