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RETRACTED ARTICLE: The porphyrias: pathophysiology

Internal and Emergency Medicine Aims and scope Submit manuscript

This article was retracted on 27 March 2011

Abstract

Porphyrias are a group of inherited and acquired metabolic disorders due to a defect in haem biosynthesis. An enzymatic defect at different steps of haem synthesis leads to tissue accumulation and excessive excretion of porphyrins and/or their toxic precursors. The specific patterns of accumulation determine the variety of clinical manifestations, ranging from acute neurovisceral attacks to skin lesions and liver disease. Most enzyme defects represent partial deficiencies, while familial cases are linked to autosomal or recessive traits. The incomplete penetrance of the genetic defects often requires the triggering or aggravating effect of host-related or environmental factors. While genetics has a role in confirming clinical suspicion and in family screening, biochemical and clinical studies are still central in the diagnosis.

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Correspondence to Antonello Pietrangelo.

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This article was retracted due to plagiarism.

An erratum to this article can be found at http://dx.doi.org/10.1007/s11739-011-0571-1

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Pietrangelo, A. RETRACTED ARTICLE: The porphyrias: pathophysiology. Intern Emerg Med 5 (Suppl 1), 65–71 (2010). https://doi.org/10.1007/s11739-010-0452-z

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  • DOI: https://doi.org/10.1007/s11739-010-0452-z

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