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Phosphofructokinase deficiency

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Phosphofructokinase Deficiency is a genetic disorder that interferes with the ability of muscles to use carbohydrates (such as glucose) for energy. It is also known as Tarui's Disease. A major symptoms is muscle pain during intense exercise.

This autosomal recessive disease is characterized by signs of discolored or darker urine, muscle weakness and cramps, anemia, and exercise intolerance.

The term refers to similar disorders that appear in both humans and some other mammals, especially dogs.


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