Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review

Abstract Background Erythropoietic protoporphyria is an inherited disorder characterized by mutations in the FECH gene, which encodes the enzyme ferrous chelatase. These mutations disrupt normal heme synthesis, leading to the accumulation of protoporphyrin in erythrocytes and other tissues. Clinical...

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Bibliographic Details

Published in:	Orphanet Journal of Rare Diseases
Main Authors:	Hongli Xiong, Song He, Zhaoxia Yang, Ruizao Zheng, Huihong Yu
Format:	Article
Language:	English
Published:	BMC 2025-07-01
Subjects:	Erythropoietic protoporphyria Ferrochelatase Gene mutations Liver complications
Online Access:	https://doi.org/10.1186/s13023-025-03860-8