Glycogen Storage Disease Type VII

**Definition:** 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.

**Tree numbers:** - C05.651.534.500.149 - C10.668.491.175.500.112 - C16.320.565.202.449.600 - C16.320.577.149 - C18.452.648.202.449.600

**Synonyms:** - Glycogenosis 7 - Deficiency, Muscle Phosphofructokinase - Muscle Phosphofructokinase Deficiency - Tarui's Disease - Tarui Disease - Pfkm Deficiency - GSD VII - Glycogen Storage Disease VII