Inherited erythrocyte Syruvate kinase eficiency in the West Highland white terrier |
| |
Authors: | B. L. Chapman U. Giger |
| |
Affiliation: | Veterinary Medical Teaching Hospital, University of California, Davis, CA 95616;*Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania, 3850 Spruce Street, Philadelphia, PA 19104-6010 |
| |
Abstract: | An eight-month-old male West Highland white terrier (WHWT) presented with mild exercise intolerance and splenomegaly caused by a severe and highly regenerative haemolytic anaemia that persisted until the dog died at two years of age. There was marked erythroid hyperplasia in the bone marrow and progressive osteosclerosis. Erythrocyte pyruvate kinase (PK) deficiency was confirmed by demonstrating a block in glycolysis at the PK step, abnormal erythrocyte PK kinetics, absence of R-type PK isoenzyme, and the presence of M2-type PK not normally expressed in erythrocytes. From the study of family members it is concluded that erythrocyte PK deficiency in the WHWT is inherited as an autosomal recessive trait. Heterozygotes have about half-normal erythrocyte PK activity, do not express the M2-type PK isoenzyme and are asymptomatic. This disease closely resembles erythrocyte PK deficiency in the basenji breed and should be considered as a differential diagnosis in young dogs with severe haemolytic anaemia. |
| |
Keywords: | |
|
|