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Article

[Inheritance in erythropoietic protoporphyria].

Pathologie-biologie - 1 Oct 2010

Schmitt C, Ducamp S, Gouya L, Deybach J-C, Puy H

Abstract excerpt

Erythropoietic protoporphyria (EPP) is an inherited disorder of heme biosynthesis that results from an accumulation of protoporphyrin IX in erythroid cells, plasma, skin and liver. EPP leads to acute photosensitivity and, in about 2% of patients, liver disease. EPP is a complex syndrome in which two genes are independently involved: FECH and ALAS2. More than 96% of unrelated EPP patients have ferrochelatase...

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Source

Identifiers

PMID: 20850938
DOI: 10.1016/j.patbio.2010.01.007

Genes

FECH
ALAS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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