Erythrocyte pyruvate kinase deficiency in three West Highland white terriers in Ireland and the UK
1 University College Dublin Veterinary Hospital, School of Veterinary Medicine, University College Dublin, Belfield, Dublin, Ireland
2 Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, USA
3 Davies Veterinary Specialists, Manor Farm Business Park, Higham Gobion, Hertfordshire, UK
4 Department of Veterinary Clinical Sciences, Royal Veterinary College, Hatfield, Hertfordshire, UK
Irish Veterinary Journal 2013, 66:12 doi:10.1186/2046-0481-66-12Published: 10 July 2013
Erythrocyte pyruvate kinase (PK) deficiency is described for the first time in three apparently unrelated West Highland white terriers (WHWT) from Ireland and the UK. All three dogs were diagnosed with markedly regenerative but persistent anaemia and had been treated for presumed immune-mediated haemolytic anaemia (IMHA) before hereditary erythrocyte PK-deficiency was confirmed by breed-specific DNA mutation analysis. This hereditary erythroenzymopathy causes haemolytic anaemia and affects several canine breeds with varying degrees of severity. Although eventually causing osteosclerosis, haemosiderosis and death, PK-deficient dogs can adapt to their anaemia for many years.
PK-deficiency should be considered in anaemic WHWTs worldwide particularly in dogs with haemolytic anaemia where evidence for an immune-mediated, infectious or toxic underlying cause is lacking.