| Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation. | |
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MedLine Citation:
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PMID: 16817012 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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J To-Figueras; C Badenas; C Carrera; C Muñoz; M Milá; M Lecha; C Herrero |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: 29 ISSN: 1573-2665 ISO Abbreviation: J. Inherit. Metab. Dis. Publication Date: 2006 Aug |
Date Detail:
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Created Date: 2006-11-14 Completed Date: 2007-01-08 Revised Date: 2007-03-21 |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: Netherlands |
Other Details:
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Languages: eng Pagination: 580-5 Citation Subset: IM |
Affiliation:
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Biochemistry and Molecular Genetics Unit, Dermatology Unit, Hospital Clínic i Provincial, IDIBAPS, University of Barcelona, Barcelona, Spain. jto@clinic.ub.es |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult DNA Mutational Analysis Female Humans Hydroxymethylbilane Synthase / genetics Male Middle Aged Models, Genetic Mutation* Polymorphism, Single-Stranded Conformational Porphobilinogen / chemistry Porphyria, Acute Intermittent / genetics*, metabolism*, urine Porphyrins / urine Sensitivity and Specificity |
| Chemical | |
Reg. No./Substance:
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0/Porphyrins; 487-90-1/Porphobilinogen; EC 2.5.1.61/Hydroxymethylbilane Synthase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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