Hereditary porphyrias are a group of eight metabolic disorders of the haem biosynthesis pathway that are characterised by acute neurovisceral symptoms, skin lesions, or both. Every porphyria is caused by abnormal function of a separate enzymatic step, resulting in a specific accumulation of haem precursors. Seven porphyrias are the result of a partial… (More)
DOI: 10.1016/S0140-6736(09)61925-5


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@article{Puy2010Porphyrias, title={Porphyrias.}, author={H. S. Puy and Laurent Gouya and Jean-charles Deybach}, journal={Lancet}, year={2010}, volume={375 9718}, pages={924-37} }