Some claim that Dracula suffered from porphyries: his phobia of light, his hair, his need for blood to survive, his original vision of the world ... So much for literature. Professor Jean-Charles Deybach is willingly rebelling against this legend invented, unfortunately, especially for patients suffering from this disease
This is the most common porphyry. Porphyria cutaneous affects about one in 25, 000 people. As in the case of other porphyries, it is a deficient enzyme, the uroporphyrinogen decarboxylase, which causes the accumulation of porphyrins in the liver, but without accumulation of precursors ALA and PBG, so there is no acute attack in cutaneous porphyria
Acute intermittent hepatic porphyria is the most common and common type of porphyria. Like other porphyria, acute hepatic porphyria is due to a deficiency of one of the enzymes of the biosynthesis of heme (PBG deaminase). This deficit is mainly expressed in the liver and is responsible for the accumulation of precursors of porphyrins ALA and PBG
Congenital erythropoietic porphyria is also called Günther's disease . It is a "recessive" genetic disease (both parents have a mutated gene) and one of the rarest forms of porphyria (one in two to three million). The principle of this porphyria is always the same: an enzyme is deficient, in this case, the uroporphyrinogen III synthase.
Erythropoietic protoporphyria is a rare hereditary porphyria "pseudo recessive". The disease appears when a mutated gene has been transmitted by one of the parents and the other parent has a gene decreased frequently in the general population. The enzyme involved is called ferrochelatase and its deficiency causes an accumulation of a porphyrin called protoporphyrin in the bone marrow
Porphyries: where did it come from? What is it exactly ? The word "Porphyria" comes from "porphyrin", a name that comes from the Greek word for "red pigment". More specifically, porphyries are the result of the accumulation of porphyrins. In our blood cells, the porphyrins combine with the iron to give the heme, and our blood its beautiful red color