Peer-reviewed veterinary case report
Hereditary phosphofructokinase deficiency causing anemia
By Hillström, Anna et al.·Published in Journal of the American Animal Hospital Association·2011·University Veterinary Hospital·View original on PubMed →
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Original publication title: Hereditary phosphofructokinase deficiency in wachtelhunds.
- Species:
- dog
Plain-English summary
Two Wachtelhund dogs were diagnosed with hereditary phosphofructokinase (PFK) deficiency after showing symptoms like exercise intolerance, anemia, and dark urine after exercise. The vet found that these dogs had low levels of a specific enzyme in their red blood cells, which confirmed the diagnosis. This condition is linked to a genetic mutation, but the Wachtelhunds have a different mutation than other breeds known to have this issue. Unfortunately, there is no specific treatment for this deficiency, so managing their exercise and monitoring their health is crucial.
People also search for: Wachtelhund exercise intolerance · dog anemia symptoms · hereditary PFK deficiency treatment
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.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/21311071/