title: Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain.
abstract: We report a biochemical and genetic characterization of four cases of hereditary coproporphyria (HCP) in Spain. All patients showed a typical HCP porphyrin excretion pattern with a high concentration of coproporphyrins in feces and inverted I:III isomer ratio. The porphyrin precursors in urine were found elevated in two patients who showed acute symptoms. The analysis of the CPO gene showed that three cases harboured novel mutations: V135A (404T>C; exon 1); L214R (641T>G; exon 2); and P249R (746C>G; exon 3) and in the fourth, a previously described R426X mutation in exon 6.
authors.affiliation: Porphyria Unit, Centre Diagnòstic Biomèdic, Hospital Clínic, IDIBAPS, University of Barcelona, Villarroel 170, 08036 Barcelona, Spain. jto@clinic.ub.es
authors.forename: Jordi
authors.initials: J
authors.lastname: To-Figueras
authors.forename: Celia
authors.initials: C
authors.lastname: Badenas
authors.forename: Maria T
authors.initials: MT
authors.lastname: Enríquez
authors.forename: Sonia
authors.initials: S
authors.lastname: Segura
authors.forename: Concepción
authors.initials: C
authors.lastname: Alvarez
authors.forename: Montserrat
authors.initials: M
authors.lastname: Milà
authors.forename: Marius
authors.initials: M
authors.lastname: Lecha
authors.forename: Carmen
authors.initials: C
authors.lastname: Herrero
mesh_terms: D000328:Adult; D002648:Child; D046349:Coproporphyria, Hereditary / Q000235:genetics* / Q000378:metabolism; D003304:Coproporphyrinogen Oxidase / Q000097:blood / Q000235:genetics*; D003306:Coproporphyrins / Q000032:analysis; D005091:Exons; D005243:Feces / Q000737:chemistry; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D011166:Porphyrins / Q000378:metabolism* / Q000652:urine; D013030:Spain
chemical_list: D003306:Coproporphyrins; D011166:Porphyrins; D003304:Coproporphyrinogen Oxidase