Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity.
- Jasmin Barman-Aksoezen,
- Domenico Girelli,
- Caterina Aurizi,
- Xiaoye Schneider-Yin,
- Natascia Campostrini,
- Luca Barbieri,
- Elisabeth I Minder,
- Gianfranco Biolcati
J Inherit Metab Dis 2017 Feb 9. Epub 2017 Feb 9.
Porphyria Centre San Gallicano Dermatological Institute IRCCS, Rome, Italy.
Patients with erythropoietic protoporphyria (EPP) have reduced activity of the enzyme ferrochelatase that catalyzes the insertion of iron into protoporphyrin IX (PPIX) to form heme. As the result of ferrochelatase deficiency, PPIX accumulates and causes severe photosensitivity. Among different patients, the concentration of PPIX varies considerably. Read More