Publications by authors named "Matthew A Agnew"

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.
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