Affected gene: PFKM
Other name: Glycogen storage disease VII
Mode of inheritance: Autosomal recessive
Mutation: CanFam3.1 chr27 g.6620819C>T (c.2228G>A)
OMIA reference: 000421-9615


Applicable breeds for testing:
Boykin Spaniel, Cocker Spaniel, English Cocker Spaniel, English Springer Spaniel, Windsprite, Whippet
Description and clinical signs
Phosphofructokinase (PFK) deficiency is an inherited metabolic disorder caused by a mutation in the PFKM gene, which plays a critical role in energy metabolism in red blood cells and muscle tissue.
Affected dogs may experience intermittent episodes of lethargy, muscle weakness, pale mucous membranes, and hyperthermia. These episodes are commonly triggered by heat, excitement, or strenuous physical activity. Between episodes, affected dogs generally appear clinically normal.
The severity and frequency of clinical signs can vary among individuals. Genetic testing allows for the identification of affected dogs and carriers, enabling appropriate management and prevention of disease transmission.
Reference:
Smith et al., 1996