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Acute intermittent porphyria (AIP) is classified as a hepatic porphyria.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Acute intermittent porphyria (AIP) is classified as a hepatic porphyria. It is a disorder of heme synthesis. Cats with AIP have half normal hydroxymethylbilane (HMB) synthase activity, a necessary enzyme in the heme synthesis pathway.
Clinical features
In cats with acute intermittent porphyria (AIP), Erythrodontia (brown discoloured teeth) is an important phenotypic feature. Cats with autosomal dominant AIP presented with erythrodontia, reddish-brown urine and mild changes in erythrocytes. The symptoms will develop at a young age. Within a few hours to a maximum of several weeks after birth, the characteristics that go with these genetic effects will become visible.
Additional information
The symptoms are very similar to those of congenital erythropoietic porphyria (CEP, OMIA 001175-9685). There are five different mutations known that can cause Acute intermittent porphyria. Tests are avaiable for all these mutations.
References
Pubmed ID: 24239138
Omia ID: 1493