caa a22 4500 46793343X CHVBK 20180406152949.0 cr unu---uuuuu 170328e20060801xx s 000 0 eng 10.1007/s10545-006-0344-6 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0344-6 Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation [Elektronische Daten] [J. To-Figueras, C. Badenas, C. Carrera, C. Muñoz, M. Milá, M. Lecha, C. Herrero] Summary: Acute intermittent porphyria (AIP) is a metabolic disease with a variable prevalence among different countries. In some areas of southern Europe it remains to be fully evaluated. We undertook a genetic and biochemical study of 16 unrelated Spanish AIP patients and relatives. The genetic analyses showed they harboured the following mutations in the porphobilinogen deaminase gene: R173W, G111R, L278P, L238P, R116W, R26C, 340insT, 730delCT, 691del30bp, and IVS14+1g>a. The mutation R173W was found in 6 patients (37.5%), including the only patients of our series with >3 recurrent porphyria attacks. While in clinical remission, all AIP patients exhibited sustained increased excretion of porphyrins and precursors. PBG excretion showed a high between-subject variation and was not related to erythrocyte PBG deaminase activity. The study of family members allowed the identification of 22 asymptomatic AIP carriers. These included 8 persons harbouring the R173W mutation belonging to four different families. Six of these latent AIP subjects showed increased PBG elimination, and in two the urinary levels were >10-fold the normal limit. These results reinforce the hypothesis that the R173W mutation may have a high biochemical and clinical penetrance among AIP patients. SSIEM and Springer, 2006 To-Figueras J. Biochemistry and Molecular Genetics Unit, Dermatology Unit, Hospital Clínic i Provincial, IDIBAPS, University of Barcelona, Barcelona, Spain aut Badenas C. Biochemistry and Molecular Genetics Unit, Dermatology Unit, Hospital Clínic i Provincial, IDIBAPS, University of Barcelona, Barcelona, Spain aut Carrera C. Biochemistry and Molecular Genetics Unit, Dermatology Unit, Hospital Clínic i Provincial, IDIBAPS, University of Barcelona, Barcelona, Spain aut Muñoz C. Biochemistry and Molecular Genetics Unit, Dermatology Unit, Hospital Clínic i Provincial, IDIBAPS, University of Barcelona, Barcelona, Spain aut Milá M. Biochemistry and Molecular Genetics Unit, Dermatology Unit, Hospital Clínic i Provincial, IDIBAPS, University of Barcelona, Barcelona, Spain aut Lecha M. Biochemistry and Molecular Genetics Unit, Dermatology Unit, Hospital Clínic i Provincial, IDIBAPS, University of Barcelona, Barcelona, Spain aut Herrero C. Biochemistry and Molecular Genetics Unit, Dermatology Unit, Hospital Clínic i Provincial, IDIBAPS, University of Barcelona, Barcelona, Spain aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 580-585 0141-8955 29:4<580 2006 29 10545 https://doi.org/10.1007/s10545-006-0344-6 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0344-6 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- To-Figueras J. Biochemistry and Molecular Genetics Unit, Dermatology Unit, Hospital Clínic i Provincial, IDIBAPS, University of Barcelona, Barcelona, Spain aut NATIONALLICENCE 700 1- Badenas C. Biochemistry and Molecular Genetics Unit, Dermatology Unit, Hospital Clínic i Provincial, IDIBAPS, University of Barcelona, Barcelona, Spain aut NATIONALLICENCE 700 1- Carrera C. Biochemistry and Molecular Genetics Unit, Dermatology Unit, Hospital Clínic i Provincial, IDIBAPS, University of Barcelona, Barcelona, Spain aut NATIONALLICENCE 700 1- Muñoz C. Biochemistry and Molecular Genetics Unit, Dermatology Unit, Hospital Clínic i Provincial, IDIBAPS, University of Barcelona, Barcelona, Spain aut NATIONALLICENCE 700 1- Milá M. Biochemistry and Molecular Genetics Unit, Dermatology Unit, Hospital Clínic i Provincial, IDIBAPS, University of Barcelona, Barcelona, Spain aut NATIONALLICENCE 700 1- Lecha M. Biochemistry and Molecular Genetics Unit, Dermatology Unit, Hospital Clínic i Provincial, IDIBAPS, University of Barcelona, Barcelona, Spain aut NATIONALLICENCE 700 1- Herrero C. Biochemistry and Molecular Genetics Unit, Dermatology Unit, Hospital Clínic i Provincial, IDIBAPS, University of Barcelona, Barcelona, Spain aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 580-585 0141-8955 29:4<580 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer