Haemolytic anaemia and exercise intolerance due to phosphofructokinase deficiency in related springer spaniels

Phosphofructokinase (PFK) deficiency is an autosomal recessive inherited di sorder ire dogs causing haemolytic crises and exertional myopathy. The clin ical signs may be confused with those of recurrent immune-mediated haemolyt ic anaemia. The deficiency has been commonly observed in field trial (worki ng) English springer spaniels (ESSPs), but also in the conformation line of ESSPs in the USA over the past two decades, This report documents the firs t family of ESSPs found with PFK deficiency in Europe. Two related adult ES SPs in Denmark had intermittent signs of pigmenturia after exercise (huntin g) and had evidence of a regenerative haemolytic anaemia. Based upon DNA se quencing data, both dogs had the previously described nonsense point mutati on in the muscle-type PFK gene (Delta 22286 -->A). Study of 17 related fami ly members using a simple and accurate PFK-DNA test revealed one additional PFK-deficient dog(with minor exercise intolerance), nine carriers and seve n normal (or 'clear') ESSPs, Recently the authors have also identified PFK carriers and affected ESSPs in the UK. Screening for PFK deficiency is reco mmended for ESSPs with suspicious clinical signs and before using any for f ield trials or breeding in order to prevent the further spread of this here ditary disorder