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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

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