Long-term iron supplementation in four patients with X-linked erythropoietic protoporphyria: associations with serum proteins and erythrocyte protoporphyrin levels-a single-centre retrospective study.

ABSTRACT:

Introduction

X-linked erythropoietic protoporphyria (XLEPP) is an ultra-rare inborn error of the heme biosynthesis characterised by the accumulation of large amounts of protoporphyrin IX (PPIX) and zinc-protoporphyrin in the erythrocytes. PPIX absorbs the energy of the visible light range and upon exposure causes painful phototoxic reactions and tissue damage. In addition, PPIX is excreted via the liver and bile, and can induce liver failure that requires life-saving liver transplantation. Case reports and data from a limited number of patients enrolled in a prospective study indicate that supplementation with iron, a co-substrate of the heme biosynthesis, can decrease blood PPIX concentrations and improve liver damage and photosensitivity in patients with XLEPP. However, long-term

SUBMITTER: Minder AE 

PROVIDER: S-EPMC11864907 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature