Multisystem

This is a Multisystem condition.

Glycogen storage disease Type VII, Phosphofructokinase Deficiency, PFK Deficiency

What is PFK Deficiency?

Affecting an enzyme required for red blood cell and skeletal muscle cell energy production, phosphofructokinase (PFK) deficiency causes red blood cells and skeletal muscle rupture and injury during strenuous exercise, overheating, or prolonged barking or panting. Affected dogs can have pale gums, a high fever, jaundiced mucous membranes, and might produce brown-colored urine, the last two being due to high levels of bilirubin, a breakdown product of ruptured red blood cells (hemolysis) and skeletal muscle cells (rhabdomyolysis). Between episodes, affected dogs have chronic mild anemia (low levels of red blood cells) but typically appear normal to owners. Management of PFK deficiency involves avoidance of hemolytic triggers such as high exercise, overheating, or excitement. PFK deficiency is an autosomal recessive inherited disorder in dogs, meaning two copies of the mutation are needed to be clinically affected. Carriers have about one half normal enzyme activity in red blood cells and muscle tissue and are clinically normal. Note that the clinical signs of PFK deficiency are very similar to those of other hemolytic diseases, including immune-mediated hemolytic anemia: If your dog is experiencing signs of hemolysis and anemia, testing your pup for the genetic mutations known to cause PFK deficiency helps you and your vet rule PFK deficiency in or out!

What are the signs & symptoms that develop in affected dogs?

Affected dogs can have pale gums, a high fever, jaundiced mucous membranes, and might produce brown-colored urine, the last two being due to high levels of bilirubin, a breakdown product of ruptured red blood cells (hemolysis) and skeletal muscle cells (rhabdomyolysis).

When do signs and symptoms develop?

Signs often first appear at approximately 4-6 months of age.

How do vets diagnose this condition?

Genetic and laboratory testing used to diagnose this disease.

How is this condition treated?

Treatment for an acute episode often involves hospitalization with careful monitoring of laboratory values. Curing the disease requires a bone marrow transplant. Note that the clinical signs of PFK deficiency are very similar to those of other hemolytic diseases, including immune-mediated hemolytic anemia: If your dog is experiencing signs of hemolysis and anemia, testing your pup for the genetic mutations known to cause PFK deficiency helps you and your vet rule PFK deficiency in or out!

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