{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T21:02:36Z","timestamp":1762376556686,"version":"3.40.5"},"reference-count":36,"publisher":"Walter de Gruyter GmbH","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,6,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2018-0527_s_999_w2aab3b7c28b1b6b1aab1c16b1Aa\">\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Phenylketonuria (PKU) management practices differ between and within countries. In 2007, the Portuguese Society for Metabolic Disorders (SPDM) approved the Portuguese Consensus (PC) for the nutritional treatment of PKU. The recently published European PKU Guidelines (EPG, 2017) systematically reviewed recent evidence and aimed to harmonise treatment protocols in Europe. The objective of this study was to appraise the EPG acceptance and implementation in Portuguese treatment centres.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2018-0527_s_998_w2aab3b7c28b1b6b1aab1c16b2Aa\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>An electronic questionnaire was prepared and the link was sent to 135 SPDM members. It outlined the 10 EPG key recommendations and compared each statement with the consensus recommendations published by SPDM. Responses were recorded and descriptive analyses were performed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2018-0527_s_997_w2aab3b7c28b1b6b1aab1c16b3Aa\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Twenty-five professionals completed the questionnaire, and over half (56%) were nutritionists\/dieticians. At least one questionnaire from each of the 10 national treatment centres was returned. In general, responders accepted most of the recommendations. However, only the recommendation about target phenylalanine (Phe) concentrations between 120 and 360 \u03bcmol\/L for patients &lt;12 years received 100% consensus with a further seven recommendations gaining over 70% consensus. Almost half of the professionals (48%, n = 12) required further discussion about the EPG-safe upper target blood Phe concentration (600 \u03bcmol\/L) suggested for patients aged \u226512 years. Almost one third (32%, n = 8) failed to agree with the recommendation in the EPG-proposed classification of Phe hydroxylase (PAH) deficiency.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2018-0527_s_996_w2aab3b7c28b1b6b1aab1c16b4Aa\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The EPG received overall good acceptance, but there was divided opinion about some recommendations which require further discussion before implementation by the Portuguese treatment centres.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2018-0527","type":"journal-article","created":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T09:03:03Z","timestamp":1559120583000},"page":"623-629","source":"Crossref","is-referenced-by-count":9,"title":["The European Phenylketonuria Guidelines and the challenges on management practices in Portugal"],"prefix":"10.1515","volume":"32","author":[{"given":"C\u00e1tia","family":"Sousa","sequence":"first","affiliation":[{"name":"Centro de Gen\u00e9tica M\u00e9dica , Centro Hospitalar Universit\u00e1rio do Porto \u2013 CHUP , Porto , Portugal"},{"name":"Faculdade de Ci\u00eancias da Nutri\u00e7\u00e3o e Alimenta\u00e7\u00e3o da Universidade do Porto , Porto , Portugal"}]},{"given":"Manuela Ferreira","family":"Almeida","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica M\u00e9dica , Centro Hospitalar Universit\u00e1rio do Porto \u2013 CHUP , Porto , Portugal"},{"name":"Centro de Refer\u00eancia na \u00e1rea de Doen\u00e7as Heredit\u00e1rias do Metabolismo , Centro Hospitalar Universit\u00e1rio do Porto \u2013 CHUP , Porto , Portugal"},{"name":"Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences , University of Porto-UMIB\/ICBAS\/UP , Porto , Portugal"}]},{"given":"Catarina","family":"Sousa Barbosa","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica M\u00e9dica , Centro Hospitalar Universit\u00e1rio do Porto \u2013 CHUP , Porto , Portugal"},{"name":"Faculdade de Ci\u00eancias da Nutri\u00e7\u00e3o e Alimenta\u00e7\u00e3o da Universidade do Porto , Porto , Portugal"}]},{"given":"Esmeralda","family":"Martins","sequence":"additional","affiliation":[{"name":"Centro de Refer\u00eancia na \u00e1rea de Doen\u00e7as Heredit\u00e1rias do Metabolismo , Centro Hospitalar Universit\u00e1rio do Porto \u2013 CHUP , Porto , Portugal"},{"name":"Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences , University of Porto-UMIB\/ICBAS\/UP , Porto , Portugal"}]},{"given":"Patr\u00edcia","family":"Janeiro","sequence":"additional","affiliation":[{"name":"Reference Centre for the Treatment of Inborn Errors of Metabolism, CHULN , Lisbon , Portugal"}]},{"given":"Isabel","family":"Tavares de Almeida","sequence":"additional","affiliation":[{"name":"Metabolism and Genetics Laboratory , Faculty of Pharmacy, University of Lisboa , Lisboa , Portugal"}]},{"given":"Anita","family":"MacDonald","sequence":"additional","affiliation":[{"name":"Birmingham Children\u2019s Hospital , Birmingham , UK"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4977-8345","authenticated-orcid":false,"given":"J\u00falio C\u00e9sar","family":"Rocha","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica M\u00e9dica , Centro Hospitalar Universit\u00e1rio do Porto \u2013 CHUP , Porto , Portugal"},{"name":"Centro de Refer\u00eancia na \u00e1rea de Doen\u00e7as Heredit\u00e1rias do Metabolismo , Centro Hospitalar Universit\u00e1rio do Porto \u2013 CHUP , Porto , Portugal"},{"name":"Centro de Gen\u00e9tica M\u00e9dica, Doutor Jacinto de Magalh\u00e3es, CHUP, EPE, Pra\u00e7a Pedro Nunes 88 , 4099-028 Porto , Portugal"},{"name":"Center for Health Technology and Services Research [CINTESIS] , Porto , Portugal"}]}],"member":"374","published-online":{"date-parts":[[2019,5,29]]},"reference":[{"key":"2023040101024180553_j_jpem-2018-0527_ref_001_w2aab3b7c28b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Blau N, Van Spronsen FJ, Levy HL. 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