Phosphofructokinase is the most important rate-controlling enzyme required for glycolysis, the metabolic pathway that coverts glucose into pyruvate, thereby releasing energy to be used for a variety of functions such as maintaining the shape of red blood cells. Phosphofructokinase deficiency also greatly inhibits the energy skeletal muscles require for exercising.
This metabolic disorder has a genetic basis, mainly affecting English Springer spaniels, American cocker spaniels, and mixed-breed dogs.
Symptoms and Types
Symptoms associated with this disorder will depend on the severity of the phosphofructokinase deficiency. Some of the more common ones include:
- Lethargy or general weakness
- Blood in urine (hematuria)
- Pale mucous membranes
- Muscle wasting and cramping
- Exercise intolerance
A deficiency in the phosphofructokinase enzyme.
You will need to give a thorough history of your dogâ€™s health to your veterinarian, including the onset and nature of the symptoms. He or she will then perform a complete physical examination as well as a complete blood test, biochemical profile, and urinalysis.
Blood testing will typically reveal anemia and other red blood cell abnormalities. A biochemistry profile, meanwhile, will usually show abnormally high levels of potassium, calcium, magnesium, urea, and total protein. Bilirubin levels will particularly be high (which can also be confirmed with the urinalysis) due to the increased destruction of red blood cells and subsequent release of bilirubin. Your veterinarian may also suggest DNA testing, such as a poly chain reaction test (PCR), to identify carrier dogs, or run further testing to measure the levels of phosphofructokinase enzyme.
It is vital that your veterinarian stabilize and rehydrate your dog first. This may involve employing fluid therapy (IV fluids) or blood transfusions, especially if the dog has severe anemia. The only way to treat phosphofructokinase deficiency, however, is through bone marrow transplantation, which is expensive and requires a healthy donor.
Living and Management
If properly managed, most dogs can have a normal lifespan, though some may have fatal complication due to severe anemia or kidney failure. It is vital that the dog be kept in a stress-free environment, away from other pets or active children. It should also not be allowed to strenuously exercise or be placed in an overly hot environment.