Tarui Disease

What is Tarui Disease?

Tarui disease (also known as phosphofructokinase deficiency, or glycogen storage disease type VII) was first described in 1965 by the Japanese physician Seiichiro Tarui and his co-workers. It is caused by deficient activity of the enzyme phosphofructokinase (muscle PFK or PFKM) in muscle tissue. Lack of this enzyme means that a complex sugar called glycogen is unable to be broken down.   For more information about Tarui Disease click here