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Research article - Peer-reviewed, 2011

Hereditary Phosphofructokinase Deficiency in Wachtelhunds

Hillström, Anna; Tvedten, Harold; Gieger, Urs; Rowe, André


Hereditary phosphofructokinase (PFK) deficiency was diagnosed in two Wachtelhund dogs and suspected in three related Wachtelhund dogs with exercise intolerance, hemolytic anemia, and pigmenturia. Severe, persistent reticulocytosis in light of only mild anemia together with hemoglobinuria after strenuous exercise suggested PFK deficiency. Low erythrocyte PFK activity together with low 2,3-diphosphoglycerate concentrations and a high hemoglobin-oxygen affinity confirmed the diagnosis. The PFK deficiency is due to a single missense mutation in the muscle-type PFK M-PFK gene in English springer and American cocker spaniels, whippets, and mixed-breed dogs; however, these PFK-deficient Wachtelhunds do not have the same PFK mutation.

Published in

Journal Of The American Animal Hospital Association
2011, volume: 47, number: 2, pages: 145-150

Authors' information

Swedish University of Agricultural Sciences, Universitetsdjursjukhuset
Swedish University of Agricultural Sciences, Department of Clinical Sciences
Gieger, Urs
Rowe, André

UKÄ Subject classification

Veterinary Science
Animal and Dairy Science

Publication Identifiers


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