Phosphofructokinase Deficiency

Phosphofructokinase is an essential enzyme that helps metabolize glucose in red blood cells and muscles, providing energy needed for physical activity. When dogs are deficient in phosphofructokinase, they experience difficulty staying active due to insufficient glucose breakdown and energy release.

Symptoms

Symptoms of phosphofructokinase deficiency may include muscle cramps, muscle weakness, fatigue and exercise intolerance. After exercise, excessive excitement and hyperthermia, affected dogs may exhibit hemoglobin and bilirubin in urine, anemia, jaundice, lethargy and lack of appetite.

Disease Management

Management of this disease consists of lifestyle adaptations to mitigate symptoms. This may involve limiting exercise and avoiding stressful situations. There is no definitive cure for phosphofructokinase deficiency, but dogs with this condition can lead relatively healthy lives and the prognosis is good. However, it is important to follow the advice of your veterinarian to prevent the onset of symptoms associated with the condition.

Genetic basis

This disease follows an autosomal recessive mode of inheritance. Autosomal recessive inheritance means that the dog, regardless of sex, must receive two copies of the mutation or pathogenic variant to be at risk of developing the disease. Both parents of an affected dog must carry at least one copy of the mutation. Animals with only one copy of the mutation are not at increased risk of developing the disease, but may pass the mutation on to future generations. Breeding between dogs carrying genetic variants that can cause disease, even if they do not show symptoms, is not recommended.

Technical report

Canine phosphofructokinase deficiency is an autosomal recessive disease that affects glucose metabolism and also destroys red blood cells in affected dogs, resulting in anemia. It is a relatively frequent pathology in English Springer Spaniel dogs. The gene responsible for producing the enzyme phosphofructokinase is PFKM. Smith et al. identified that the c.2228G>A variant of the PFKM gene produces an amino acid change that results in a premature stop codon and causes the deficiency.

Most affected breeds

American Cocker Spaniel
English Cocker Spaniel
Wachtelhund
Whippet

Bibliography

Smith BF, Stedman H, Rajpurohit Y,et al. Molecular basis of canine muscle type phosphofructokinase deficiency. J Biol Chem. 1996 Aug 16;271(33):20070-4.