Peer-reviewed veterinary case report
Erythrodontia and urine changes in cats need genetic tests
By Clavero, Sonia et al.·Published in Veterinary journal (London, England : 1997)·2013·Department of Genetics and Genomic Sciences, United States·View original on PubMed →
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Original publication title: Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses.
- Species:
- cat
Plain-English summary
A 2-year-old domestic shorthair cat was brought to the vet because of reddish-brown teeth (erythrodontia) and yellow-brown urine. Tests revealed that the cat had a rare condition called acute intermittent porphyria (AIP), which was confirmed through biochemical and genetic analysis. The vet found specific mutations in the cat's genes that caused the condition. While AIP is uncommon, it can lead to noticeable symptoms like the ones this cat experienced. With proper diagnosis and understanding of the condition, the cat can receive appropriate care and management.
People also search for: cat reddish-brown teeth · cat yellow urine causes · acute intermittent porphyria in cats
Abstract
Erythrodontia is the hallmark of human congenital erythropoietic porphyria (CEP), but is also a major phenotypic feature of acute intermittent porphyria (AIP) in cats. In this study, detailed biochemical and molecular analyses were performed on two unrelated cats with autosomal dominant AIP that presented with erythrodontia, yellow-brown urine and mild changes in erythrocytes. The cats had elevated concentrations of urinary 5-aminolevulinic acid and porphobilinogen, and half normal erythrocytic hydroxymethylbilane synthase (HMBS) activity. Two novel HMBS mutations were detected; one cat had a deletion (c.107_110delACAG) and one cat had a splicing alteration (c.826-1G>A), both leading to premature stop codons and truncated proteins (p.D36Vfs 6 and p.L276Efs 6, respectively). These studies highlight the importance of appropriate biochemical and molecular genetic analyses for the accurate diagnoses of porphyrias in cats and extend the molecular genetic heterogeneity of feline AIP. Thus, although erythrodontia is a classic sign of congenital erythropoietic porphyria in human beings, cats with erythrodontia may have acute intermittent porphyria, a hepatic porphyria.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/24239138/