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    Mol Genet Metab. 2005 Jun;85(2):160-3. Epub 2005 Feb 25.

    Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain.

    To-Figueras J, Badenas C, Enríquez MT, Segura S, Alvarez C, Milà M, Lecha M, Herrero C.

    Porphyria Unit, Centre Diagnòstic Biomèdic, Hospital Clínic, IDIBAPS, University of Barcelona, Villarroel 170, 08036 Barcelona, Spain. jto@clinic.ub.es

    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.

    PMID: 15896662 [PubMed - indexed for MEDLINE]

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