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Article

Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members.

The British journal of dermatology - 1 Nov 2007

Berroeta L, Man I, Goudie D R, Whatley S D, Elder G H, Ibbotson S H

Abstract excerpt

Erythropoietic protoporphyria (EPP) is an inherited disorder of haem biosynthesis caused by decreased activity of the enzyme ferrochelatase (FECH), which catalyses the insertion of iron into protoporphyrin, the last step in haem biosynthesis. Development of clinically overt EPP usually requires inheritance of a severe FECH mutation trans to a low-expression FECH variant (FECH IVS3-48C), which is present in 13% of...

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Source

Identifiers

PMID: 17711525
DOI: 10.1111/j.1365-2133.2007.08117.x

Genes

FECH

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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