Glycogen storage disease Type VII, Phosphofructokinase Deficiency, 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.
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Signs and symptoms
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).
Signs often first appear at approximately 4-6 months of age. -
Diagnosis
Genetic and laboratory testing used to diagnose this disease.
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Treatment
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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What to do if your dog is at risk
Actions
- Management of PFK deficiency involves avoidance of hemolytic triggers such as high exercise, overheating, or excitement.
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Genetic Information
This mutation was first described in the Wachtelhund .
This mutation is inherited in an autosomal recessive manner; that is, a dog requires two copies of the mutation to show signs of the disease. Carriers have about one half normal enzyme activity in red blood cells and muscle tissue and are clinically normal.
Gene names:
PFKM (Exon 8) ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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