What are the porphyrias?

The porphyrias are a group of metabolic conditions which can be either genetic or acquired. The porphyrin pathway is involved in haem synthesis. Haem is the red pigment in haemoglobin in blood cells and carries oxygen in the blood. A deficiency or block of one of the enzymes in the porphyrin pathway results in a build-up of the corresponding precursor protein or intermediate molecule.

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