Metabolic control of patients with phenylketonuria in a portuguese metabolic centre comparing three different recommendations
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFMG |
Texto Completo: | https://doi.org/10.3390/nu13093118 http://hdl.handle.net/1843/52415 https://orcid.org/0000-0002-1683-1314 https://orcid.org/0000-0001-7401-4016 https://orcid.org/0000-0002-9247-9391 https://orcid.org/0000-0002-8727-3743 https://orcid.org/0000-0002-4977-8345 |
Resumo: | 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. |
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2023-04-24T20:33:38Z2023-04-24T20:33:38Z2021-09-06139https://doi.org/10.3390/nu130931182072-6643http://hdl.handle.net/1843/52415https://orcid.org/0000-0002-1683-1314https://orcid.org/0000-0001-7401-4016https://orcid.org/0000-0002-9247-9391https://orcid.org/0000-0002-8727-3743https://orcid.org/0000-0002-4977-8345Blood 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.A fenilalanina sanguínea (Phe) é usada como marcador primário para avaliar o controle metabólico. Nosso estudo teve como objetivo descrever o controle metabólico de pacientes com fenilcetonúria (PKU) comparando três diferentes recomendações de tratamento (diretrizes europeias/diretrizes americanas/consenso português). Este foi um estudo retrospectivo, observacional, de centro único em pacientes com PKU coletando dados sobre os níveis de Phe no sangue de 2017. Dados de ingestão nutricional e prescrição de sapropterina (BH4) foram coletados na última consulta de 2017. A amostra final estudada incluiu 87 pacientes (48 % mulheres) [13 hiperfenilalaninemia; 47 PKU leve; 27 clássica PKU] com uma idade média de 18 anos (intervalo: 1-36 anos). O número médio de medições de Phe no sangue para os pacientes foi de 21 (intervalo: 6-89). Em pacientes com idade < 12 anos, o nível médio de Phe no sangue foi de 300 µmol/L (intervalo 168–480) e 474 µmol/L (intervalo 156–1194) para pacientes ≥ 12 anos. No geral, uma média de 83% dos níveis de Phe no sangue estavam dentro da faixa-alvo das diretrizes europeias de PKU. Em pacientes com idade ≥ 12 anos, houve uma porcentagem mediana mais alta de níveis de Phe no sangue dentro da faixa-alvo das diretrizes europeias de PKU (≥12 anos: 84% vs. <12 anos: 56%). Em crianças < 12 anos com PKU clássica (n = 2), apenas 34% dos níveis de Phe no sangue estavam dentro da faixa-alvo para todas as 3 diretrizes e 49% com PKU leve (n = 11). As meninas tiveram melhor controle do que os meninos (89% vs. 66% dos níveis médios de Phe dentro das Diretrizes Europeias). Embora esteja claro que 50% ou mais dos pacientes foram incapazes de alcançar um controle metabólico aceitável nas opções de tratamento atuais, é necessário um alvo de Phe superior globalmente acordado associado a resultados ideais para as faixas etárias. Mais estudos precisam examinar como clínicas com recursos diferentes, diferentes alvos terapêuticos de Phe e frequência de monitoramento se relacionam com o controle metabólico.Outra AgênciaengUniversidade Federal de Minas GeraisUFMGBrasilHCL - HOSPITAL DAS CLINICASNutrientsFenilcetonúriasFenilalaninaAminoácidos - MetabolismoPhenylketonuriaPhenylalanineMetabolic controlGuidelinesMetabolic control of patients with phenylketonuria in a portuguese metabolic centre comparing three different recommendationsControle metabólico de doentes com fenilcetonúria num centro metabólico português comparando três diferentes recomendaçõesinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://www.mdpi.com/2072-6643/13/9/3118Viviane de Cássia KanufreManuela Ferreira AlmeidaCatarina Sousa BarbosaCarla CarmonaAnabela BandeiraEsmeralda MartinsSara RochaArlindo GuimasRosa RibeiroAnita MacDonaldAlex PintoJúlio César Rochaapplication/pdfinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFMGinstname:Universidade Federal de Minas Gerais (UFMG)instacron:UFMGLICENSELicense.txtLicense.txttext/plain; charset=utf-82042https://repositorio.ufmg.br/bitstream/1843/52415/1/License.txtfa505098d172de0bc8864fc1287ffe22MD51ORIGINALMetabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations.pdfMetabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations.pdfapplication/pdf399237https://repositorio.ufmg.br/bitstream/1843/52415/2/Metabolic%20Control%20of%20Patients%20with%20Phenylketonuria%20in%20a%20Portuguese%20Metabolic%20Centre%20Comparing%20Three%20Different%20Recommendations.pdf532ecdf3a802f0567e0d571336eaaee9MD521843/524152023-04-24 17:33:38.59oai:repositorio.ufmg.br:1843/52415TElDRU7vv71BIERFIERJU1RSSUJVSe+/ve+/vU8gTu+/vU8tRVhDTFVTSVZBIERPIFJFUE9TSVTvv71SSU8gSU5TVElUVUNJT05BTCBEQSBVRk1HCiAKCkNvbSBhIGFwcmVzZW50Ye+/ve+/vW8gZGVzdGEgbGljZW7vv71hLCB2b2Pvv70gKG8gYXV0b3IgKGVzKSBvdSBvIHRpdHVsYXIgZG9zIGRpcmVpdG9zIGRlIGF1dG9yKSBjb25jZWRlIGFvIFJlcG9zaXTvv71yaW8gSW5zdGl0dWNpb25hbCBkYSBVRk1HIChSSS1VRk1HKSBvIGRpcmVpdG8gbu+/vW8gZXhjbHVzaXZvIGUgaXJyZXZvZ++/vXZlbCBkZSByZXByb2R1emlyIGUvb3UgZGlzdHJpYnVpciBhIHN1YSBwdWJsaWNh77+977+9byAoaW5jbHVpbmRvIG8gcmVzdW1vKSBwb3IgdG9kbyBvIG11bmRvIG5vIGZvcm1hdG8gaW1wcmVzc28gZSBlbGV0cu+/vW5pY28gZSBlbSBxdWFscXVlciBtZWlvLCBpbmNsdWluZG8gb3MgZm9ybWF0b3Mg77+9dWRpbyBvdSB277+9ZGVvLgoKVm9j77+9IGRlY2xhcmEgcXVlIGNvbmhlY2UgYSBwb2zvv710aWNhIGRlIGNvcHlyaWdodCBkYSBlZGl0b3JhIGRvIHNldSBkb2N1bWVudG8gZSBxdWUgY29uaGVjZSBlIGFjZWl0YSBhcyBEaXJldHJpemVzIGRvIFJJLVVGTUcuCgpWb2Pvv70gY29uY29yZGEgcXVlIG8gUmVwb3NpdO+/vXJpbyBJbnN0aXR1Y2lvbmFsIGRhIFVGTUcgcG9kZSwgc2VtIGFsdGVyYXIgbyBjb250Ze+/vWRvLCB0cmFuc3BvciBhIHN1YSBwdWJsaWNh77+977+9byBwYXJhIHF1YWxxdWVyIG1laW8gb3UgZm9ybWF0byBwYXJhIGZpbnMgZGUgcHJlc2VydmHvv73vv71vLgoKVm9j77+9IHRhbWLvv71tIGNvbmNvcmRhIHF1ZSBvIFJlcG9zaXTvv71yaW8gSW5zdGl0dWNpb25hbCBkYSBVRk1HIHBvZGUgbWFudGVyIG1haXMgZGUgdW1hIGPvv71waWEgZGUgc3VhIHB1YmxpY2Hvv73vv71vIHBhcmEgZmlucyBkZSBzZWd1cmFu77+9YSwgYmFjay11cCBlIHByZXNlcnZh77+977+9by4KClZvY++/vSBkZWNsYXJhIHF1ZSBhIHN1YSBwdWJsaWNh77+977+9byDvv70gb3JpZ2luYWwgZSBxdWUgdm9j77+9IHRlbSBvIHBvZGVyIGRlIGNvbmNlZGVyIG9zIGRpcmVpdG9zIGNvbnRpZG9zIG5lc3RhIGxpY2Vu77+9YS4gVm9j77+9IHRhbWLvv71tIGRlY2xhcmEgcXVlIG8gZGVw77+9c2l0byBkZSBzdWEgcHVibGljYe+/ve+/vW8gbu+/vW8sIHF1ZSBzZWphIGRlIHNldSBjb25oZWNpbWVudG8sIGluZnJpbmdlIGRpcmVpdG9zIGF1dG9yYWlzIGRlIG5pbmd177+9bS4KCkNhc28gYSBzdWEgcHVibGljYe+/ve+/vW8gY29udGVuaGEgbWF0ZXJpYWwgcXVlIHZvY++/vSBu77+9byBwb3NzdWkgYSB0aXR1bGFyaWRhZGUgZG9zIGRpcmVpdG9zIGF1dG9yYWlzLCB2b2Pvv70gZGVjbGFyYSBxdWUgb2J0ZXZlIGEgcGVybWlzc++/vW8gaXJyZXN0cml0YSBkbyBkZXRlbnRvciBkb3MgZGlyZWl0b3MgYXV0b3JhaXMgcGFyYSBjb25jZWRlciBhbyBSZXBvc2l077+9cmlvIEluc3RpdHVjaW9uYWwgZGEgVUZNRyBvcyBkaXJlaXRvcyBhcHJlc2VudGFkb3MgbmVzdGEgbGljZW7vv71hLCBlIHF1ZSBlc3NlIG1hdGVyaWFsIGRlIHByb3ByaWVkYWRlIGRlIHRlcmNlaXJvcyBlc3Tvv70gY2xhcmFtZW50ZSBpZGVudGlmaWNhZG8gZSByZWNvbmhlY2lkbyBubyB0ZXh0byBvdSBubyBjb250Ze+/vWRvIGRhIHB1YmxpY2Hvv73vv71vIG9yYSBkZXBvc2l0YWRhLgoKQ0FTTyBBIFBVQkxJQ0Hvv73vv71PIE9SQSBERVBPU0lUQURBIFRFTkhBIFNJRE8gUkVTVUxUQURPIERFIFVNIFBBVFJPQ++/vU5JTyBPVSBBUE9JTyBERSBVTUEgQUfvv71OQ0lBIERFIEZPTUVOVE8gT1UgT1VUUk8gT1JHQU5JU01PLCBWT0Pvv70gREVDTEFSQSBRVUUgUkVTUEVJVE9VIFRPRE9TIEUgUVVBSVNRVUVSIERJUkVJVE9TIERFIFJFVklT77+9TyBDT01PIFRBTULvv71NIEFTIERFTUFJUyBPQlJJR0Hvv73vv71FUyBFWElHSURBUyBQT1IgQ09OVFJBVE8gT1UgQUNPUkRPLgoKTyBSZXBvc2l077+9cmlvIEluc3RpdHVjaW9uYWwgZGEgVUZNRyBzZSBjb21wcm9tZXRlIGEgaWRlbnRpZmljYXIgY2xhcmFtZW50ZSBvIHNldSBub21lKHMpIG91IG8ocykgbm9tZXMocykgZG8ocykgZGV0ZW50b3IoZXMpIGRvcyBkaXJlaXRvcyBhdXRvcmFpcyBkYSBwdWJsaWNh77+977+9bywgZSBu77+9byBmYXLvv70gcXVhbHF1ZXIgYWx0ZXJh77+977+9bywgYWzvv71tIGRhcXVlbGFzIGNvbmNlZGlkYXMgcG9yIGVzdGEgbGljZW7vv71hLgo=Repositório de PublicaçõesPUBhttps://repositorio.ufmg.br/oaiopendoar:2023-04-24T20:33:38Repositório Institucional da UFMG - Universidade Federal de Minas Gerais (UFMG)false |
dc.title.pt_BR.fl_str_mv |
Metabolic control of patients with phenylketonuria in a portuguese metabolic centre comparing three different recommendations |
dc.title.alternative.pt_BR.fl_str_mv |
Controle metabólico de doentes com fenilcetonúria num centro metabólico português comparando três diferentes recomendações |
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 Viviane de Cássia Kanufre Phenylketonuria Phenylalanine Metabolic control Guidelines Fenilcetonúrias Fenilalanina Aminoácidos - Metabolismo |
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 |
Viviane de Cássia Kanufre |
author_facet |
Viviane de Cássia Kanufre Manuela Ferreira Almeida Catarina Sousa Barbosa Carla Carmona Anabela Bandeira Esmeralda Martins Sara Rocha Arlindo Guimas Rosa Ribeiro Anita MacDonald Alex Pinto Júlio César Rocha |
author_role |
author |
author2 |
Manuela Ferreira Almeida Catarina Sousa Barbosa Carla Carmona Anabela Bandeira Esmeralda Martins Sara Rocha Arlindo Guimas Rosa Ribeiro Anita MacDonald Alex Pinto Júlio César Rocha |
author2_role |
author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Viviane de Cássia Kanufre Manuela Ferreira Almeida Catarina Sousa Barbosa Carla Carmona Anabela Bandeira Esmeralda Martins Sara Rocha Arlindo Guimas Rosa Ribeiro Anita MacDonald Alex Pinto Júlio César Rocha |
dc.subject.por.fl_str_mv |
Phenylketonuria Phenylalanine Metabolic control Guidelines |
topic |
Phenylketonuria Phenylalanine Metabolic control Guidelines Fenilcetonúrias Fenilalanina Aminoácidos - Metabolismo |
dc.subject.other.pt_BR.fl_str_mv |
Fenilcetonúrias Fenilalanina Aminoácidos - Metabolismo |
description |
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. |
publishDate |
2021 |
dc.date.issued.fl_str_mv |
2021-09-06 |
dc.date.accessioned.fl_str_mv |
2023-04-24T20:33:38Z |
dc.date.available.fl_str_mv |
2023-04-24T20:33:38Z |
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http://hdl.handle.net/1843/52415 |
dc.identifier.doi.pt_BR.fl_str_mv |
https://doi.org/10.3390/nu13093118 |
dc.identifier.issn.pt_BR.fl_str_mv |
2072-6643 |
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https://orcid.org/0000-0002-1683-1314 https://orcid.org/0000-0001-7401-4016 https://orcid.org/0000-0002-9247-9391 https://orcid.org/0000-0002-8727-3743 https://orcid.org/0000-0002-4977-8345 |
url |
https://doi.org/10.3390/nu13093118 http://hdl.handle.net/1843/52415 https://orcid.org/0000-0002-1683-1314 https://orcid.org/0000-0001-7401-4016 https://orcid.org/0000-0002-9247-9391 https://orcid.org/0000-0002-8727-3743 https://orcid.org/0000-0002-4977-8345 |
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2072-6643 |
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Nutrients |
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Universidade Federal de Minas Gerais |
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Brasil |
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HCL - HOSPITAL DAS CLINICAS |
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Universidade Federal de Minas Gerais |
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