 Phosphofructokinase (PFK) is a major regulatory enzyme found in all cells of the body, which
  catalyses (stimulates by means of a chemical reaction) the metabolism (conversion) of sugar into
  energy to maintain normal cell function.

 PFK deficiency is an enzyme storage disease which causes abnormalities in red blood cells and
  muscle cells.

 It is inherited in English Springer Spaniels through a single autosomal recessive trait.

 A hallmark sign of this disease is intermittent dark urine (the colour ranging from orange to dark
  coffee- brown), and, in severe cases, pale gums (anaemia) or jaundice (yellow colouration of skin and
  gums), with fever and poor appetite. Clinical signs (most notably the dark urine) commonly develop
  following strenuous exercise, prolonged barking, or extensive panting, all of which are conditions that
  accelerate the destruction of red blood cells in affected dogs.

 PFK deficiency can present as anything from mild to life-threatening episodic illness. Clinical signs
  may be particularly noticeable in field trial/active working dogs, where weakness, exercise
  intolerance, muscle cramps, poor performance or even outright refusal to move, may be observed.

 It is essential to get a proper diagnosis, as PFK deficiency can sometimes be confused with
  autoimmune haemolytic anaemia and other acquired diseases.

 Clinical manifestations usually resolve within hours to days. While there is no actual treatment for
  Phosphofructokinase Deficiency, it can be successfully managed to the point that affected dogs may
  have relatively normal lifespan. The most important “treatment” is managing the dog’s activity and
  stress levels, to prevent more severe anaemia. Situations that can precipitate such crises (including
  strenuous exercise or stress) should be avoided. In cases where anaemia becomes critical,
  veterinary care is required to manage the condition until it normalises.

 A tiny change (point mutation) in the M-type phosphofructokinase gene was identified by research
  groups at the University of Pennsylvania, which has resulted in the availability of a genetic screening
  (DNA) test for PFK deficiency. This test accurately determines whether a dog is affected, a carrier,
  or a normal dog.

 The Animal Heath Trust requires blood samples – 2mls EDTA - for the DNA test.

 You should make application to the AHT for the PFK test to be carried out on the AHT specified form.
  The .pdf form ‘Request for DNA Testing’ can be downloaded from
  .
  A separate form should be completed for each blood sample to be tested. Details of the cost of
  each test can also be found on the website.

 Further information can be obtained by emailing or by contacting
  Symone Ingram (Telephone +44 (0) 1638 555621 or Fax +44 (0) 1638 555643).

 Samples should be sent together with the completed DNA Testing Form and payment for each sample
  to:

Genetic Services, Animal Health Trust,
Lanwades Park,
Kentford,
Newmarket,
Suffolk CB7 7UU.

 The AHT will usually post the results to you within 4 – 6 weeks of receipt of sample.

ESS Breed Clubs Health Co-ordinators:

Lesley Bloomfield (Tel: 01923 823579 Email:
Louise Scott (Tel: 020 8427 3396 Email:

WHAT ARE THE SYMPTOMS?