Phosphofructokinase (PFK) Deficiency
Phosphofructokinase Deficiency, commonly called PFK Deficiency (or sometimes less accurately called just “PFK”), is an inherited disorder where an essential enzyme, phosphofructokinase, is deficient. This enzyme, PFK for short, is critical in the conversion of glucose to energy, particularly in red blood cells and muscle cells. Dogs who are deficient in PFK will have muscle and red blood cells that cannot supply their own energy needs, which becomes most apparent in times of stress or heavy exercise. Much of the time, during levels of low stress and exercise, they will have a lower-than-normal level of red blood cells (“persistent mild anemia”), which may not be as readily apparent and may not exhibit any visible symptoms. It is in times of stress and exercise that the condition would become obvious and likely demand veterinary attention.
Symptoms of Phosphofructokinase DeficiencyMost of the symptoms would appear after stress, exercise, heat, or excessive barking, and they include tiredness, weakness, apparent muscle cramps, pale gums, and high fever. One symptom that is often the identifying factor of the disease is dark-colored urine, caused by the breakdown of blood products.
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