Metabolic control of patients with phenylketonuria in a portuguese metabolic centre comparing three different recommendations

Detalhes bibliográficos
Autor(a) principal: Kanufre, Viviane
Data de Publicação: 2021
Outros Autores: Almeida, Manuela Ferreira, Barbosa, Catarina Sousa, Carmona, Carla, Bandeira, Anabela, Martins, Esmeralda, Rocha, Sara, Guimas, Arlindo, Ribeiro, Rosa, Macdonald, Anita, Pinto, Alex, Rocha, Júlio César
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10362/127063
Resumo: Funding Information: Conflicts of Interest: M.F.A. received grants from Glutamine, Nutricia, Merck Serono, Biomarin, Orphan and Lifediet to attend scientific meetings. A.M. has received research funding and honoraria from Nutricia, Vitaflo International and Merck Serono. She is a member of the European Nutritionist Expert Panel (Biomarin), a member of Sapropterin Advisory Board (Biomarin), a member of the advisory board entitled ELEMENT (Danone-Nutricia), and a member of an advisory board for Arla and Applied Pharma Research. A.P. received an educational grant from Cambrooke Therapeutics and grants from Vitaflo, Nutricia, Merck Serono, Biomarin, and Mevalia to attend scientific meetings. J.C.R. is a member of the European Nutritionist Expert Panel (Biomarin), the Advisory Board for Applied Pharma Research and Nutricia, and received honoraria as a speaker from APR, Merck Serono, Biomarin, Nutricia, Vitaflo, Cambrooke, PIAM and Lifediet. Funding Information: Funding: CINTESIS—UIDB/4255/2020 a program financially supported by Fundação para a Ciência e Tecnologia/Ministério da Educação e Ciência, through national funds is acknowledged. Publisher Copyright: © 2021 by the authors. Licensee MDPI, Basel, Switzerland.
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spelling Metabolic control of patients with phenylketonuria in a portuguese metabolic centre comparing three different recommendationsGuidelinesMetabolic controlPhenylalaninePhenylketonuriaFood ScienceNutrition and DieteticsFunding Information: Conflicts of Interest: M.F.A. received grants from Glutamine, Nutricia, Merck Serono, Biomarin, Orphan and Lifediet to attend scientific meetings. A.M. has received research funding and honoraria from Nutricia, Vitaflo International and Merck Serono. She is a member of the European Nutritionist Expert Panel (Biomarin), a member of Sapropterin Advisory Board (Biomarin), a member of the advisory board entitled ELEMENT (Danone-Nutricia), and a member of an advisory board for Arla and Applied Pharma Research. A.P. received an educational grant from Cambrooke Therapeutics and grants from Vitaflo, Nutricia, Merck Serono, Biomarin, and Mevalia to attend scientific meetings. J.C.R. is a member of the European Nutritionist Expert Panel (Biomarin), the Advisory Board for Applied Pharma Research and Nutricia, and received honoraria as a speaker from APR, Merck Serono, Biomarin, Nutricia, Vitaflo, Cambrooke, PIAM and Lifediet. Funding Information: Funding: CINTESIS—UIDB/4255/2020 a program financially supported by Fundação para a Ciência e Tecnologia/Ministério da Educação e Ciência, through national funds is acknowledged. Publisher Copyright: © 2021 by the authors. Licensee MDPI, Basel, Switzerland.Blood phenylalanine (Phe) is used as the primary marker to evaluate metabolic control. Our study aimed to describe the metabolic control of patients with phenylketonuria (PKU) comparing three different treatment recommendations (European guidelines/US guidelines/Portuguese consensus). This was a retrospective, observational, single centre study in patients with PKU collecting data on blood Phe levels from 2017. Nutritional intake data and sapropterin (BH4) prescription were collected at the last appointment of 2017. The final sample studied included 87 patients (48% females) [13 hyperphenylalaninemia; 47 mild PKU; 27 classical PKU] with a median age of 18 y (range: 1–36 y). The median number of blood Phe measurements for patients was 21 (range: 6–89). In patients aged < 12 y, the median blood Phe level was 300 µmol/L (range 168–480) and 474 µmol/L (range 156–1194) for patients ≥ 12 y. Overall, a median of 83% of blood Phe levels were within the European PKU guidelines target range. In patients aged ≥ 12 years, there was a higher median % of blood Phe levels within the European PKU guidelines target range (≥12 y: 84% vs. <12 y: 56%). In children < 12 y with classical PKU (n = 2), only 34% of blood Phe levels were within target range for all 3 guidelines and 49% with mild PKU (n = 11). Girls had better control than boys (89% vs. 66% median Phe levels within European Guidelines). Although it is clear that 50% or more patients were unable to achieve acceptable metabolic control on current treatment options, a globally agreed upper Phe target associated with optimal outcomes for age groups is necessary. More studies need to examine how clinics with dissimilar resources, different therapeutic Phe targets and frequency of monitoring relate to metabolic control.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNKanufre, VivianeAlmeida, Manuela FerreiraBarbosa, Catarina SousaCarmona, CarlaBandeira, AnabelaMartins, EsmeraldaRocha, SaraGuimas, ArlindoRibeiro, RosaMacdonald, AnitaPinto, AlexRocha, Júlio César2021-11-03T05:03:00Z2021-092021-09-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10362/127063eng1422-8599PURE: 34339860https://doi.org/10.3390/nu13093118info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-03-11T05:07:09Zoai:run.unl.pt:10362/127063Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:46:01.195052Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Metabolic control of patients with phenylketonuria in a portuguese metabolic centre comparing three different recommendations
title Metabolic control of patients with phenylketonuria in a portuguese metabolic centre comparing three different recommendations
spellingShingle Metabolic control of patients with phenylketonuria in a portuguese metabolic centre comparing three different recommendations
Kanufre, Viviane
Guidelines
Metabolic control
Phenylalanine
Phenylketonuria
Food Science
Nutrition and Dietetics
title_short Metabolic control of patients with phenylketonuria in a portuguese metabolic centre comparing three different recommendations
title_full Metabolic control of patients with phenylketonuria in a portuguese metabolic centre comparing three different recommendations
title_fullStr Metabolic control of patients with phenylketonuria in a portuguese metabolic centre comparing three different recommendations
title_full_unstemmed Metabolic control of patients with phenylketonuria in a portuguese metabolic centre comparing three different recommendations
title_sort Metabolic control of patients with phenylketonuria in a portuguese metabolic centre comparing three different recommendations
author Kanufre, Viviane
author_facet Kanufre, Viviane
Almeida, Manuela Ferreira
Barbosa, Catarina Sousa
Carmona, Carla
Bandeira, Anabela
Martins, Esmeralda
Rocha, Sara
Guimas, Arlindo
Ribeiro, Rosa
Macdonald, Anita
Pinto, Alex
Rocha, Júlio César
author_role author
author2 Almeida, Manuela Ferreira
Barbosa, Catarina Sousa
Carmona, Carla
Bandeira, Anabela
Martins, Esmeralda
Rocha, Sara
Guimas, Arlindo
Ribeiro, Rosa
Macdonald, Anita
Pinto, Alex
Rocha, Júlio César
author2_role author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
RUN
dc.contributor.author.fl_str_mv Kanufre, Viviane
Almeida, Manuela Ferreira
Barbosa, Catarina Sousa
Carmona, Carla
Bandeira, Anabela
Martins, Esmeralda
Rocha, Sara
Guimas, Arlindo
Ribeiro, Rosa
Macdonald, Anita
Pinto, Alex
Rocha, Júlio César
dc.subject.por.fl_str_mv Guidelines
Metabolic control
Phenylalanine
Phenylketonuria
Food Science
Nutrition and Dietetics
topic Guidelines
Metabolic control
Phenylalanine
Phenylketonuria
Food Science
Nutrition and Dietetics
description Funding Information: Conflicts of Interest: M.F.A. received grants from Glutamine, Nutricia, Merck Serono, Biomarin, Orphan and Lifediet to attend scientific meetings. A.M. has received research funding and honoraria from Nutricia, Vitaflo International and Merck Serono. She is a member of the European Nutritionist Expert Panel (Biomarin), a member of Sapropterin Advisory Board (Biomarin), a member of the advisory board entitled ELEMENT (Danone-Nutricia), and a member of an advisory board for Arla and Applied Pharma Research. A.P. received an educational grant from Cambrooke Therapeutics and grants from Vitaflo, Nutricia, Merck Serono, Biomarin, and Mevalia to attend scientific meetings. J.C.R. is a member of the European Nutritionist Expert Panel (Biomarin), the Advisory Board for Applied Pharma Research and Nutricia, and received honoraria as a speaker from APR, Merck Serono, Biomarin, Nutricia, Vitaflo, Cambrooke, PIAM and Lifediet. Funding Information: Funding: CINTESIS—UIDB/4255/2020 a program financially supported by Fundação para a Ciência e Tecnologia/Ministério da Educação e Ciência, through national funds is acknowledged. Publisher Copyright: © 2021 by the authors. Licensee MDPI, Basel, Switzerland.
publishDate 2021
dc.date.none.fl_str_mv 2021-11-03T05:03:00Z
2021-09
2021-09-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10362/127063
url http://hdl.handle.net/10362/127063
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 1422-8599
PURE: 34339860
https://doi.org/10.3390/nu13093118
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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