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The Porphyrias


The porphyrias are a group of disorders characterized by genetic or acquired enzyme deficiencies in the metabolic pathway of haem, resulting in accumulation of haem precursors (5-aminolevulinic acid, porphobilinogen and porphyrins). The porphyrins are light-sensitizing substances, and disorders related to them result in phototoxic symptoms in skin areas exposed to light. The porphyrias are due to abnormalities in the control of the porphyrin - haem metabolic pathway, with each type of porphyria resulting from a specific enzyme deficiency.




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