title: Hereditary phosphofructokinase deficiency in wachtelhunds.
abstract: 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.
authors.affiliation: University Veterinary Hospital, Swedish University of Agricultural Sciences, Uppsala, Sweden. anna.hillstrom@uds.slu.se
authors.forename: Anna
authors.initials: A
authors.lastname: Hillström
authors.forename: Harold
authors.initials: H
authors.lastname: Tvedten
authors.forename: André
authors.initials: A
authors.lastname: Rowe
authors.forename: Urs
authors.initials: U
authors.lastname: Giger
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000097:blood / Q000662:veterinary; D000818:Animals; D004283:Dog Diseases / Q000097:blood / Q000235:genetics*; D004285:Dogs; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D020022:Genetic Predisposition to Disease; D025221:Phosphofructokinases / Q000172:deficiency*
chemical_list: D025221:Phosphofructokinases