Phosphofructokinase Deficiency (PFK) Genetic Test | GenSol Diagnostics
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Phosphofructokinase Deficiency (PFK)


Canine Phosphofructokinase Deficiency (PFK) is a genetic disease which prevents the metabolism of glucose into available energy resulting in exercise intolerance and muscle disease in Cocker Spaniels. PFK deficiency also destroys red blood cells in affected dogs, leading to anemia. The PFK deficiency gene frequency in Cockers is estimated to be 2-10% of the population.

American Cocker Spaniel
Cocker Spaniel
English Cocker Spaniel
English Springer Spaniel

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop PFK disorder nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop PFK disorder but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to develop exercise intolerance and muscle disease.

Phosphofructokinase Deficiency (PFK)

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