Ferrochelatase

FDA approves first treatment to increase pain-free light exposure in patients with a rare disorder

Retrieved on: 
Tuesday, October 8, 2019
Branches of biology, Organ systems, Porphyrias, Hair color, Skin pigmentation, Rare diseases, RTT, Erythropoietic protoporphyria, Ferrochelatase, Melanocortin 1 receptor, Heme, Afamelanotide

"For patients who are suffering from erythropoietic protoporphyria, a rare disorder, exposure to light may be extremely painful.

Key Points: 
  • "For patients who are suffering from erythropoietic protoporphyria, a rare disorder, exposure to light may be extremely painful.
  • Erythropoietic protoporphyria is a rare disorder caused by mutations leading to impaired activity of ferrochelatase, an enzyme involved in heme production.
  • Light reaching the skin can react with PPIX causing intense skin pain and skin changes, such as redness and thickening.
  • Scenesse (afamelanotide), a melanocortin-1 receptor (MC1-R) agonist, increases the production of eumelanin in the skin independent of exposure to sunlight or artificial light sources.