title: Genetic study in a Singaporean patient with erythropoietic protoporphyria.
abstract: 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.
authors.affiliation: Department of Dermatology, National Skin Centre, Singapore. sychuah@nsc.gov.sg
authors.forename: Sai Yee
authors.initials: SY
authors.lastname: Chuah
authors.forename: Shang-Ian
authors.initials: SI
authors.lastname: Tee
authors.forename: Zacharias Aloysius Dwi
authors.initials: ZA
authors.lastname: Pramono
authors.forename: Colin Thiam Seng
authors.initials: CT
authors.lastname: Theng
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People; D005294:Ferrochelatase / Q000235:genetics* / Q000378:metabolism; D006418:Heme / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D008297:Male; D010787:Photosensitivity Disorders / Q000097:blood / Q000209:etiology / Q000235:genetics*; D046351:Protoporphyria, Erythropoietic / Q000097:blood / Q000150:complications / Q000235:genetics*; D011524:Protoporphyrins / Q000097:blood; D012846:Singapore; D013472:Sunlight / Q000009:adverse effects
chemical_list: D011524:Protoporphyrins; D006418:Heme; D005294:Ferrochelatase