Peer-reviewed veterinary case report
Inherited enzyme deficiency causing anemia in American Cocker Spaniel
By Giger, U et al.·Published in Journal of the American Veterinary Medical Association·1992·Department of Clinical Studies, United States·View original on PubMed →
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Original publication title: Inherited phosphofructokinase deficiency in an American cocker spaniel.
- Species:
- dog
Plain-English summary
A 3-year-old female American Cocker Spaniel was brought to the vet due to ongoing episodes of anemia and fatigue caused by a condition called phosphofructokinase deficiency, which affects how her body processes energy. This inherited disorder is more commonly seen in English Springer Spaniels, but genetic testing showed that this Cocker Spaniel had the same mutation, indicating a shared ancestry. Treatment options for managing her symptoms may include supportive care and monitoring her condition closely.
People also search for: American Cocker Spaniel anemia symptoms · inherited energy deficiency in dogs · phosphofructokinase deficiency treatment
Abstract
A 3-year-old female American Cocker Spaniel with a chronic hemolytic disorder and hemolytic crises was found to have M-type phosphofructokinase deficiency. This inherited erythroenzymopathy and myopathy is commonly diagnosed in English Springer Spaniels, but the family study of this Cocker Spaniel, although supporting an autosomal recessive mode of inheritance, did not reveal any English Springer Spaniel ancestors. Molecular genetic studies did, however, identify the same mutation in this dog as we previously reported in the English Springer Spaniel breed, suggesting that this mutation originated prior to the separation of these 2 breeds.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/1289336/