Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018
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| Publication Date: | 2024 |
| Other Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Article |
| Language: | eng |
| Source: | Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) |
| Download full: | http://hdl.handle.net/10362/170016 |
Summary: | Publisher Copyright: © 2024 by the authors. |
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Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018Is It a Changing Landscape?classical PKUhyperphenylalaninaemiametabolic controlmild PKUmonitoringphenylalaninephenylketonuriasapropterintyrosineFood ScienceNutrition and DieteticsPublisher Copyright: © 2024 by the authors.Background: In 2011, a European phenylketonuria (PKU) survey reported that the blood phenylalanine (Phe) levels were well controlled in early life but deteriorated with age. Other studies have shown similar results across the globe. Different target blood Phe levels have been used throughout the years, and, in 2017, the European PKU guidelines defined new targets for blood Phe levels. This study aimed to evaluate blood Phe control in patients with PKU across Europe. Methods: nine centres managing PKU in Europe and Turkey participated. Data were collected retrospectively from medical and dietetic records between 2012 and 2018 on blood Phe levels, PKU severity, and medications. Results: A total of 1323 patients (age range:1–57, 51% male) participated. Patient numbers ranged from 59 to 320 in each centre. The most common phenotype was classical PKU (n = 625, 48%), followed by mild PKU (n = 357, 27%) and hyperphenylalaninemia (HPA) (n = 325, 25%). The mean percentage of blood Phe levels within the target range ranged from 65 ± 54% to 88 ± 49% for all centres. The percentage of Phe levels within the target range declined with increasing age (<2 years: 89%; 2–5 years: 84%; 6–12 years: 73%; 13–18 years: 85%; 19–30 years: 64%; 31–40 years: 59%; and ≥41 years: 40%). The mean blood Phe levels were significantly lower and the percentage within the target range was significantly higher (p < 0.001) in patients with HPA (290 ± 325 μmol/L; 96 ± 24%) and mild PKU (365 ± 224 μmol/L; 77 ± 36%) compared to classical PKU (458 ± 350 μmol/L, 54 ± 46%). There was no difference between males and females in the mean blood Phe levels (p = 0.939), but the percentage of Phe levels within the target range was higher in females among school-age children (6–12 years; 83% in females vs. 78% in males; p = 0.005), adolescents (13–18 years; 62% in females vs. 59% in males; p = 0.034) and adults (31–40 years; 65% in females vs. 41% in males; p < 0.001 and >41 years; 43% in females vs. 28% in males; p < 0.001). Patients treated with sapropterin (n = 222) had statistically significantly lower Phe levels compared to diet-only-treated patients (mean 391 ± 334 μmol/L; percentage within target 84 ± 39% vs. 406 ± 334 μmol/L; 73 ± 41%; p < 0.001), although a blood Phe mean difference of 15 µmol/L may not be clinically relevant. An increased frequency of blood Phe monitoring was associated with better metabolic control (p < 0.05). The mean blood Phe (% Phe levels within target) from blood Phe samples collected weekly was 271 ± 204 μmol/L, (81 ± 33%); for once every 2 weeks, it was 376 ± 262 μmol/L, (78 ± 42%); for once every 4 weeks, it was 426 ± 282 μmol/L, (71 ± 50%); and less than monthly samples, it was 534 ± 468 μmol/L, (70 ± 58%). Conclusions: Overall, blood Phe control deteriorated with age. A higher frequency of blood sampling was associated with better blood Phe control with less variability. The severity of PKU and the available treatments and resources may impact the blood Phe control achieved by each treatment centre.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)Centro de Investigação em Tecnologias e Serviços de Saúde (CINTESIS)Comprehensive Health Research Centre (CHRC) - pólo NMSRUNPinto, AlexAhring, KirstenAlmeida, Manuela FerreiraAshmore, CatherineBélanger-Quintana, AmayaBurlina, AlbertoCoşkun, TurgayDaly, Annevan Dam, EstherDursun, AliEvans, SharonFeillet, FrançoisGiżewska, MariaGökmen-Özel, HulyaHickson, MaryHoekstra, YtekeIlgaz, FatmaJackson, RichardLeśniak, AlicjaLoro, ChristianMalicka, KatarzynaPatalan, MichałRocha, Júlio CésarSivri, SerapRodenburg, Irisvan Spronsen, FrancjanStrączek, KamillaTokatli, AyşegülMacDonald, Anita2024-07-25T22:21:25Z2024-072024-07-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10362/170016eng1422-8599PURE: 95549901https://doi.org/10.3390/nu16132064info:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2024-09-09T01:39:08Zoai:run.unl.pt:10362/170016Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T18:46:57.952215Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse |
| dc.title.none.fl_str_mv |
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018 Is It a Changing Landscape? |
| title |
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018 |
| spellingShingle |
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018 Pinto, Alex classical PKU hyperphenylalaninaemia metabolic control mild PKU monitoring phenylalanine phenylketonuria sapropterin tyrosine Food Science Nutrition and Dietetics |
| title_short |
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018 |
| title_full |
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018 |
| title_fullStr |
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018 |
| title_full_unstemmed |
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018 |
| title_sort |
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018 |
| author |
Pinto, Alex |
| author_facet |
Pinto, Alex Ahring, Kirsten Almeida, Manuela Ferreira Ashmore, Catherine Bélanger-Quintana, Amaya Burlina, Alberto Coşkun, Turgay Daly, Anne van Dam, Esther Dursun, Ali Evans, Sharon Feillet, François Giżewska, Maria Gökmen-Özel, Hulya Hickson, Mary Hoekstra, Yteke Ilgaz, Fatma Jackson, Richard Leśniak, Alicja Loro, Christian Malicka, Katarzyna Patalan, Michał Rocha, Júlio César Sivri, Serap Rodenburg, Iris van Spronsen, Francjan Strączek, Kamilla Tokatli, Ayşegül MacDonald, Anita |
| author_role |
author |
| author2 |
Ahring, Kirsten Almeida, Manuela Ferreira Ashmore, Catherine Bélanger-Quintana, Amaya Burlina, Alberto Coşkun, Turgay Daly, Anne van Dam, Esther Dursun, Ali Evans, Sharon Feillet, François Giżewska, Maria Gökmen-Özel, Hulya Hickson, Mary Hoekstra, Yteke Ilgaz, Fatma Jackson, Richard Leśniak, Alicja Loro, Christian Malicka, Katarzyna Patalan, Michał Rocha, Júlio César Sivri, Serap Rodenburg, Iris van Spronsen, Francjan Strączek, Kamilla Tokatli, Ayşegül MacDonald, Anita |
| author2_role |
author author author author author author author author author author author author author author author author author 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) Centro de Investigação em Tecnologias e Serviços de Saúde (CINTESIS) Comprehensive Health Research Centre (CHRC) - pólo NMS RUN |
| dc.contributor.author.fl_str_mv |
Pinto, Alex Ahring, Kirsten Almeida, Manuela Ferreira Ashmore, Catherine Bélanger-Quintana, Amaya Burlina, Alberto Coşkun, Turgay Daly, Anne van Dam, Esther Dursun, Ali Evans, Sharon Feillet, François Giżewska, Maria Gökmen-Özel, Hulya Hickson, Mary Hoekstra, Yteke Ilgaz, Fatma Jackson, Richard Leśniak, Alicja Loro, Christian Malicka, Katarzyna Patalan, Michał Rocha, Júlio César Sivri, Serap Rodenburg, Iris van Spronsen, Francjan Strączek, Kamilla Tokatli, Ayşegül MacDonald, Anita |
| dc.subject.por.fl_str_mv |
classical PKU hyperphenylalaninaemia metabolic control mild PKU monitoring phenylalanine phenylketonuria sapropterin tyrosine Food Science Nutrition and Dietetics |
| topic |
classical PKU hyperphenylalaninaemia metabolic control mild PKU monitoring phenylalanine phenylketonuria sapropterin tyrosine Food Science Nutrition and Dietetics |
| description |
Publisher Copyright: © 2024 by the authors. |
| publishDate |
2024 |
| dc.date.none.fl_str_mv |
2024-07-25T22:21:25Z 2024-07 2024-07-01T00:00:00Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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publishedVersion |
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http://hdl.handle.net/10362/170016 |
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http://hdl.handle.net/10362/170016 |
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eng |
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eng |
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1422-8599 PURE: 95549901 https://doi.org/10.3390/nu16132064 |
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openAccess |
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