Hereditary Phosphofructokinase Deficiency

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.