AI Article Synopsis

  • Erythropoietic protoporphyria (EPP) is a genetic disorder caused by low levels of ferrochelatase, affecting heme production, while X-linked protoporphyria (XLP) results from overactive δ-aminolevulinic acid synthase 2 (ALAS2), leading to similar symptoms.
  • Both conditions cause a buildup of protoporphyrin IX, resulting in extreme sensitivity to light and possible severe liver issues in some patients.
  • New treatments like dersimelagon are being developed to improve management options for EPP and XLP beyond traditional methods of sun avoidance.

Article Abstract

Erythropoietic protoporphyria (EPP) is a genetic disorder stemming from reduced ferrochelatase expression, the final enzyme in the pathway of heme biosynthesis. A closely related condition, X-linked protoporphyria (XLP), bears similar clinical features although it arises from the heightened activity of δ-aminolevulinic acid synthase 2 (ALAS2), the first and normally rate-controlling enzyme in heme biosynthesis in developing red blood cells. Both of these abnormalities result in the buildup of protoporphyrin IX, leading to excruciating light sensitivity and, in a minority of cases, potentially fatal liver complications. Traditionally, managing EPP and XLP involved sun avoidance. However, the emergence of innovative therapies, such as dersimelagon, is reshaping the therapeutic landscape for these conditions. In this review, we summarize salient features of the properties of dersimelagon, shedding light on its potential role in advancing our understanding of treatment options for EPP and XLP.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10819203PMC
http://dx.doi.org/10.3390/ph17010031DOI Listing

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