Identification of a ferrochelatase mutation in a Chinese family with erythropoietic protoporphyria.

doi:10.1016/j.jhep.2007.09.013

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Article

Identification of a ferrochelatase mutation in a Chinese family with erythropoietic protoporphyria.

Journal of hepatology - 1 Feb 2008

Kong Xiao-Fei, Ye Jing, Gao De-Yong, Gong Qi-Ming, Zhang Dong-Hua, Lu Zhi-Meng, Lu Yi-Ming, Zhang Xin-Xin

Abstract excerpt

BACKGROUND/AIMS: Erythropoietic protoporphyria (EPP) is a rare autosomal dominant disorder of heme biosynthesis characterized by a partial decrease in ferrochelatase (FECH) activity leading to excessive accumulation of protoporphyrin. While a majority of EPP patients only exhibit photosensitivity, a small percentage of patients also develop liver complications and need liver transplantation. METHODS: In this...

Topics

Adult
Aged
Child
Female
Ferrochelatase
Humans
Male
Middle Aged
Mutation
Protoporphyria, Erythropoietic

Source

Open in PubMed

Identifiers

PMID: 18160121
DOI: 10.1016/j.jhep.2007.09.013

Genes

FECH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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