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 recessive - read more
Mutation: M-PFK gene
Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.
Disease control: read more
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.