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Inherited erythrocyte Syruvate kinase eficiency in the West Highland white terrier
Author(s) -
Chapman B. L.,
Giger U.
Publication year - 1990
Publication title -
journal of small animal practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.7
H-Index - 67
eISSN - 1748-5827
pISSN - 0022-4510
DOI - 10.1111/j.1748-5827.1990.tb00707.x
Subject(s) - pyruvate kinase deficiency , medicine , asymptomatic , pyruvate kinase , osteosclerosis , endocrinology , glycolysis , pathology , metabolism
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 M 2 ‐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 M 2 ‐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.