About The Medical Condition Disease, Tarui

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Disease, Tarui

Disease, Tarui Medical Condition Defined & Explained
Disease, Tarui Medical Condition

What's The Definition Of The Medical Condition Disease, Tarui?

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.

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