Introduction to Phosphofructokinase deficiency

Phosphofructokinase deficiency is also known as Tauri disease. This deficiency can be found in humans and other mammals, especially dogs. Although, In dogs the deficiency is most common in English Springer Spaniels and American Cocker Spaniels. But it has also been in Whippets and Wachtelhunds. Mixed-breed dogs of these breeds are also at risk for PFK deficiency. It is a muscle metabolic disorder that interferes with the energy provided in food. This results in exercise intolerance, cramps, and possibly, acute muscle breakdown that also results in your urine turning a rust color. It gets its name from the Japanese physician, Seiichiro Tarui, who first observed the condition in 1965. In order for humans to get this deficiency, both parents has to be carriers of the genetic disorder. The best way to know if your at risk of getting it is a family member with PFK deficiency.

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The Molecular Basis

The molecular basis of this deficiency is a genetic defect in the Phosphofructokinase enzyme. This enzyme also happens to be the most important rate-controlling enzyme that is required for glycolysis. This genetic defect causes difficulty in the breakdown of glucose (sugar). Which we need to provide out body with energy to perform everyday activities. This deficiency also effect she conversion ofglucose external image Types-fueling_muscles.jpginto pryruvates and the way we maintain our red blood cells. This results in us not having enough energy to do simple things like workout or simple everyday tasks due to the lack of energy our skeletal muscles are getting for exercise.