Peer-reviewed veterinary case report
PCR test finds pyruvate kinase deficiency in Japanese purebred cats
By Kushida, Kazuya et al.·Published in The Journal of veterinary medical science·2015·Joint Faculty of Veterinary Medicine, Japan·View original on PubMed →
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Original publication title: Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan.
- Species:
- cat
Plain-English summary
A study found that Abyssinian and Somali cats in Japan have a high risk of developing a genetic condition called erythrocyte pyruvate kinase (PK) deficiency, which can lead to anemia. Researchers created a quick test to identify this genetic mutation, making it easier for vets to diagnose and manage the condition. While Bengal and American Shorthair cats showed a lower frequency of the mutation, testing is still recommended to prevent the disease from spreading. Pet owners should be aware of this condition, especially if their purebred cat shows signs of anemia, and discuss testing options with their veterinarian.
People also search for: cat anemia symptoms · Abyssinian cat genetic testing · PK deficiency in cats · Somali cat health issues · Bengal cat anemia treatment
Abstract
Erythrocyte pyruvate kinase (PK) deficiency is an inherited glycolytic erythroenzymopathy caused by mutations of the PKLR gene. A causative mutation of the feline PKLR gene was originally identified in Abyssinian and Somali cats in the U.S.A. In the present study, a TaqMan probe-based real-time PCR genotyping assay was developed and evaluated for rapid genotyping and large-scale screening for this mutation. Furthermore, a genotyping survey was carried out in a population of four popular purebred cats in Japan to determine the current mutant allele frequency. The assay clearly displayed all genotypes of feline PK deficiency, indicating its suitability for large-scale survey as well as diagnosis. The survey demonstrated that the mutant allele frequency in Abyssinian and Somali cats was high enough to warrant measures to control and prevent the disease. The mutant allele frequency was relatively low in Bengal and American Shorthair cats; however, the testing should still be carried out to prevent the spread of the disease. In addition, PK deficiency should always be considered in the differential diagnosis of anemia in purebred cats in Japan as well as worldwide.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/25716288/