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Porphyrias: An overview

Karl E Anderson, MD, FACP
Section Editor
Donald H Mahoney, Jr, MD
Deputy Editor
Jennifer S Tirnauer, MD


The porphyrias are metabolic disorders caused by altered activities of enzymes within the heme biosynthetic pathway [1,2]. The alteration in enzyme activity is usually due to an inherited mutation in the gene for that enzyme. However, in porphyria cutanea tarda (PCT), the most common of the porphyrias, acquired inhibition of the fifth enzyme in the pathway, uroporphyrin decarboxylase (UROD), develops during life, specifically in the liver.

This overview of the porphyrias will emphasize what physicians in any specialty should know about these diseases, and how they are classified, recognized, and distinguished from one another.

Other topic reviews within UpToDate should be consulted when one of the specific types of porphyria is suspected or diagnosed, as follows:

(See "ALA dehydratase porphyria".)

(See "Pathogenesis, clinical manifestations, and diagnosis of acute intermittent porphyria" and "Management and prognosis of acute intermittent porphyria".)

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Literature review current through: Nov 2017. | This topic last updated: Mar 31, 2016.
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