Porphyria, congenital erythropoietic (CEP) or acute intermittent (AIP)

Disease overview

Porphyria is a group of diseases associated with the accumulation of porphyrins or their precursors, which is caused by disrupted biosynthesis of the heme molecule. There are two known types of porphyria - erythropoietic (associated with erythrocyte formation in the bone marrow) and hepatic (responsible for liver dysfunction). Acute intermittent porphyria (AIP) is a type of hepatic porphyria, while congenital erythropoietic porphyria (CEP) is a form of erythropoietic porphyria. AIP mostly affects neurological functioning, while CEP is associated with severe photosensitivity and hemolytic anemia.

Gene name

UROS (associated with CEP), HMBS (associated with AIP)

Inheritance

Autosomal recessive (CEP); autosomal dominant or recessive, depending on the mutation (AIP)

Signs and symptoms

It is possible for porphyria to be asymptomatic. Common clinical signs in cats include dark yellow-brown urine and reddish-brown teeth (erythrodontia).