Muscle type of phosphofructokinase deficiency is inherited disease of glycogen metabolism. It is caused by a nonsense mutation that terminates the synthesis of a fully functional protein, making it less stable. The protein lacks functional domain responsible for its activity. The affected dogs usually show the following clinical signs that are associated with inability of metabolizing glycogen: weakness, lethargy, exercise intolerance, poor performance, muscle cramps, anaemia, jaundice and dark-coloured urine.
Inheritance: autosomal recesive- read more
Mutation: PFKD gene
Genetic test: Disease or carrier can be identified by genetic testing at any age. The real-time PCR method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs.
Disease control: read more
Affected breeds: American Cocker Spaniel, English Springer Spaniels, Whippet
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.