Hereditary Phosphofructokinase Deficiency

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Heart & Blood

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Hereditary Phosphofructokinase (PFK) Deficiency is an inherited disorder affecting several dog breeds, including American Cocker Spaniels, English Cocker Spaniels, English Springer Spaniels, Whippets, and Wachtelhunds. Mutations in the PFKM gene cause the condition, encoding the enzyme phosphofructokinase, which is crucial for energy production in red blood cells and skeletal muscle cells. This autosomal recessive condition impairs the dog's ability to metabolize glucose effectively, leading to energy deficits and cell rupture during periods of stress or exertion.

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List of affected breeds:

Genetic research has linked this gene and condition in the following breeds:

Cocker Spaniel, English Springer Spaniel, Whippet

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What does this mean for a dog with this trait?

While there's no cure for PFK Deficiency, affected dogs can often live a normal lifespan with proper management. The goal is to prevent triggering episodes and provide supportive treatment when necessary. Genetic testing is crucial, as carriers appear clinically normal but can pass on the condition to their offspring.

Symptoms

Dogs affected by PFK Deficiency typically start to show signs between 3 to 5 years of age. The primary symptoms include exercise intolerance, intermittent lethargy, and weakness, especially after strenuous activity, overheating, or prolonged barking. During these episodes, affected dogs may exhibit pale or jaundiced gums and high fever.

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