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Genetic study in a Singaporean patient with erythropoietic protoporphyria
Author(s) -
Chuah Sai Yee,
Tee ShangIan,
Pramono Zacharias Aloysius Dwi,
Theng Colin Thiam Seng
Publication year - 2012
Publication title -
photodermatology, photoimmunology and photomedicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.736
H-Index - 60
eISSN - 1600-0781
pISSN - 0905-4383
DOI - 10.1111/j.1600-0781.2012.00685.x
Subject(s) - erythropoietic protoporphyria , ferrochelatase , protoporphyrin , photosensitivity , allele , genetics , porphyria , mutation , erythropoiesis , biology , medicine , heme , endocrinology , gene , anemia , biochemistry , enzyme , porphyrin , physics , quantum mechanics
Summary Erythropoietic protoporphyria ( EPP ) is a rare autosomal dominant disorder of haem biosynthesis resulting from a partial decrease in ferrochelatase ( FECH ) activity which leads to the excessive accumulation of protoporphyrin in blood, erythrocytes and tissues. Cutaneous manifestations of photosensitivity usually appear in early infancy upon the first sun exposures. This normally requires the co‐inheritance of a common hypomorphic FECH allele and a deleterious FECH mutation. Here, we report the first Singaporean Chinese patient with EPP characterized at the molecular level.