Clinical manifestations, diagnosis, and treatment of porphyrias

Porphyrias are a group of disorders caused by defective enzymes involved in the heme biosynthesis pathway. A defective enzyme in heme biosynthesis will lead to a reduction in heme production and an accumulation of porphyrin precursors. Depending on the defective enzyme, the accumulation of porphyrins can lead to a number of clinical manifestations. Porphyrias are enshrouded in a cloud of terminology that includes names of molecules, enzymes, associated diseases, and diagnostic markers. To differentiate porphyrias fromother diseases and accurately diagnose porphyrias, one must understand the "language of porphyrias." In this article, we aim to simplify the language of porphyrias by presenting a synopsis of the metabolic pathway, clinical presentation, diagnosis, and treatment of porphyrias.