Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain.
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.
To-Figueras
Jordi
J
Porphyria Unit, Centre Diagnòstic Biomèdic, Hospital Clínic, IDIBAPS, University of Barcelona, Villarroel 170, 08036 Barcelona, Spain. jto@clinic.ub.es
Badenas
Celia
C
Enríquez
Maria T
MT
Segura
Sonia
S
Alvarez
Concepción
C
Milà
Montserrat
M
Lecha
Marius
M
Herrero
Carmen
C
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
D003306:Coproporphyrins; D011166:Porphyrins; D003304:Coproporphyrinogen Oxidase