Care for horses & livestock/farm animals
Care for cats, dogs & other companion animals
Related Terms: Acute Intermittent Porphyria, HMBS
Sample Types: Cheek brushes/swabs or Fresh EDTA blood
This type of test request requires a pre approval. Please email PennGen@vet.upenn.edu to get pre approval before taking any samples. If you don't get a pre approval your request will be cancelled.
Highly variable (4 months to 8 years have been observed)
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The age at which clinical signs become apparent varies substantially — 4 months to 8 years of age have been observed. Clinical signs include yellow-brown urine, erythrodontia (tooth discoloration), and porphyrinuria.
Porphyrin accumulation in teeth, bones and other tissues.
HMBS and NM_001177808.1:c.107_110delACAG (Domestic Short Hair)
HMBS and NM_001177808.1:c.826-1G>A (Domestic Short Hair)
HMBS and NM_001177808.1:c.445C>T (Domestic Short Hair)
HMBS and NM_001177808.1:c.189dupT (Siamese)
HMBS and NM_001177808.1:c.842_844delGAG (Siamese)
Clavero S, Ahuja Y, Bishop DF, Kwait B, Haskins ME, Giger U, Desnick RJ. Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses. Vet J. 2013 Dec;198(3):720-2. doi: 10.1016/j.tvjl.2013.10.008. Epub 2013 Oct 10. PMID: 24239138; PMCID: PMC3963809.
Clavero S, Bishop DF, Haskins ME, Giger U, Kauppinen R, Desnick RJ. Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. Hum Mol Genet. 2010 Feb 15;19(4):584-96. doi: 10.1093/hmg/ddp525. Epub 2009 Nov 24. PMID: 19934113; PMCID: PMC2807367.