Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses

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• 作者：Sonia Clavero ; Yuri Ahuja ; David F. Bishop ; Brittany Kwait ; Mark E. Haskins ; Urs Giger ; Robert J. Desnick
• 关键词：Acute intermittent porphyria ; Hydroxymethylbilane synthase ; HMBS ; Feline ; Anemia
• 刊名：The Veterinary Journal
• 出版年：December, 2013
• 年：2013
• 卷：198
• 期：3
• 页码：720-722
• 全文大小：231 K

文摘

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^{鈭?/sup>6 and p.L276Efs鈭?/sup>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.}