Management of phenylketonuria in Europe: Survey results from 19 countries

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dc.contributor.authorBlau, Nenad
dc.contributor.authorBélanger-Quintana, Amaya
dc.contributor.authorDemirkol, Mübeccel
dc.contributor.authorFeillet, François
dc.contributor.authorGiovannini, Marcello
dc.contributor.authorMacDonald, Anita
dc.contributor.authorTrefz, Friedrich K.
dc.date.accessioned2025-01-21T16:28:02Z
dc.date.available2025-01-21T16:28:02Z
dc.date.issued2010
dc.departmentKırıkkale Üniversitesi
dc.description.abstractTo gain better insight in the most current diagnosis and treatment practices for phenylketonuria (PKU) from a broad group of experts, a European PKU survey was performed. The questionnaire, consisting of 33 questions, was sent to 243 PKU professionals in 165 PKU centers in 23 European countries. The responses were compiled and descriptive analyses were performed. One hundred and one questionnaires were returned by 93/165 centers (56%) from 19/23 European countries (83%). The majority of respondents (77%) managed patients of all age groups and more than 90% of PKU teams included physicians or dieticians/nutritionists. The greatest variability existed especially in the definition of PKU phenotypes, therapeutic blood phenylalanine (Phe) target concentrations, and follow-up practices for PKU patients. The tetrahydrobiopterin (BH4; sapropterin) loading test was performed by 54% of respondents, of which 61% applied a single dose test (20 mg/kg over 24 h). BH4 was reported as a treatment option by 34%. This survey documents differences in diagnostic and treatment practices for PKU patients in European centers. In particular, recommendations for the treatment decision varied greatly between different European countries. There is an urgent need to pool long-term data in PKU registries in order to generate an evidence-based international guideline. © 2009 Elsevier Inc. All rights reserved.
dc.identifier.doi10.1016/j.ymgme.2009.09.005
dc.identifier.endpage115
dc.identifier.issn1096-7192
dc.identifier.issue2
dc.identifier.pmid19800826
dc.identifier.scopus2-s2.0-73749088607
dc.identifier.scopusqualityQ2
dc.identifier.startpage109
dc.identifier.urihttps://doi.org/10.1016/j.ymgme.2009.09.005
dc.identifier.urihttps://hdl.handle.net/20.500.12587/23457
dc.identifier.volume99
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherAcademic Press Inc.
dc.relation.ispartofMolecular Genetics and Metabolism
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_20241229
dc.subjectBH4; Diet; Guidelines; Hyperphenylalaninemia; Phenylalanine; PKU
dc.titleManagement of phenylketonuria in Europe: Survey results from 19 countries
dc.typeArticle

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