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Porphyria
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The porphyrias are a group of disorders that appear when one of the chemical steps the body uses to make heme fails.
Heme is part of the hemoproteins, proteins that carry it inside them, and the best known of these is hemoglobin, which carries oxygen in the blood. When one of the steps in that production jams, whatever came before it piles up: the porphyrins and their precursors. It is a stalled assembly line: whatever was already finished piles up. Where that buildup starts is what distinguishes erythropoietic from hepatic porphyrias.
There are two broad ways they show up. Cutaneous porphyrias mainly affect the skin: skin exposed to the sun becomes fragile and breaks out in blisters. Acute porphyrias mainly affect the nervous system, with attacks of abdominal pain.
In brief
The porphyrias are disorders caused by faults in the chemical steps that lead to heme production.
Heme is a component of hemoproteins such as hemoglobin; when a step fails, porphyrins and their precursors build up, and where they build up first defines erythropoietic and hepatic types.
A stalled assembly line: whatever was already finished piles up.
Cutaneous porphyrias mainly affect the skin, which becomes fragile and blisters in the sun; acute porphyrias mainly affect the nervous system, with attacks of abdominal pain.
Sources (1)
- MedlinePlus Genetics, U.S. National Library of MedicinePorphyria, MedlinePlus GeneticsPublished
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