Dog Phosphofructokinase Deficiency PFKD

43.90 € inc. Vat

Acronyms: PFKD, M-PFKD
Gene: PFKD
Mutation: Point mutation
Mode of inheritance: Autosomal recessive
Breeds: American Cocker Spaniel, English Springer Spaniel, Whippet

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Product Description

Dog Phosphofructokinase Deficiency PFKD

Dog Phosphofructokinase Deficiency PFKD is a genetic disorder that prevents the phosphofructokinase enzyime from functioning properly. It is a rare inherited glycogen storage disease that causes a metabolic myopathy and compensated hemolytic disorder. The affected dogs have a chronic compensated hemolytic disorder and exertional myopathy. However, these animals most often present with hemolytic crises due to the high capacity of the dog for aerobic work and the intrinsic alkaline fragility of erythrocytes. Dogs with M-PFK deficiency have 6–22% of normal erythrocyte PFK activity and 1–4% of normal muscle PFK activity.

Dog Phosphofructokinase Deficiency is a recessive disorder, so a dog can be a carrier of PFK deficiency and not display any symptoms associated with the disorder. It is estimated that at least 10% of the cocker spaniel population are carriers, which makes the importance of genetic testing even higher. If two carriers of PFKD are bred, there is a 25% chance that the offspring could receive the mutated allele from each parent and be affected by the disease.


Smith, B.F., Stedman, H., Rajpurohit, Y., Henthorn, P.S., Wolfe, J.H., Patterson, D.F., and Giger, U. (1996). Molecular Basis of Canine Muscle Type Phosphofructokinase Deficiency. J. Biol. Chem. 271, 20070–20074.