Phosphofructokinase deficiency

Phosphofructokinase deficiency
Phosphofructokinase deficiency
Other names	Glycogen storage disease type VII or Tarui's disease
	A rendering of the human muscular form of phosphofructokinase. Mutations in the production of this enzyme are the cause of Tarui's disease. The symmetry of the enzyme is a result of its tetrameric structure.
Specialty	Endocrinology
Symptoms	Muscle pain, exercise intolerance, hemolytic anemia

Phosphofructokinase deficiency is a rare muscular metabolic disorder, with an autosomal recessive inheritance pattern. It is characterized as a deficiency in the Phosphofructokinase (PFK) enzyme throughout the body, including the skeletal muscles and red blood cells. Phosphofrucotkinase is an enzyme involved in the glycolytic process. The lack of PFK blocks the completion of the glycolytic pathway. Therefore, all products past the block would be deficient, including Adenosine triphosphate (ATP).

It may affect humans as well as other mammals (especially dogs). It was named after the Japanese physician Seiichiro Tarui (b. 1927), who first observed the condition in 1965.

Phosphofructokinase deficiency
Other names	Glycogen storage disease type VII or Tarui's disease

A rendering of the human muscular form of phosphofructokinase. Mutations in the production of this enzyme are the cause of Tarui's disease. The symmetry of the enzyme is a result of its tetrameric structure.
Specialty	Endocrinology
Symptoms	Muscle pain, exercise intolerance, hemolytic anemia