title: Inherited erythrocyte pyruvate kinase deficiency in a beagle dog.
abstract: A 1-year-old, female Beagle dog with minimal exercise intolerance was found to have a persistent, severe, and highly regenerative anemia, splenomegaly, and progressive osteosclerosis. Despite near-normal in vitro erythrocyte pyruvate kinase (PK) activity, the authors diagnosed PK deficiency by demonstrating a glycolytic block at the PK step, the lack of normal R-type PK isoenzyme, and the presence of M(2)-type PK in the animal's erythrocytes. The dam had half-normal erythrocyte PK activity, which supports an autosomal recessive mode of inheritance. We conclude from our studies that close similarities exist between erythrocyte PK deficiency in Beagle, Basenji, and West Highland White Terrier dogs and that this form of PK deficiency may be more widespread than previously thought.
authors.affiliation: Section of Medical Genetics, Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, 3850 Spruce Street, Philadelphia, PA 19104-6010.
authors.forename: Urs
authors.initials: U
authors.lastname: Giger
authors.forename: Gail D.
authors.initials: GD
authors.lastname: Mason
authors.forename: Ping
authors.initials: P
authors.lastname: Wang