{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T14:03:19Z","timestamp":1775743399535,"version":"3.50.1"},"reference-count":151,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T00:00:00Z","timestamp":1694390400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"BioMarin Europe Ltd."},{"name":"BioMarin Pharmaceutical Inc."}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nutrients"],"abstract":"<jats:p>Many adults with phenylketonuria (PKU) rely on medical nutrition therapy (MNT; low phenylalanine (Phe) diet with protein substitutes\/medical foods) to maintain blood Phe concentrations within recommended ranges and prevent PKU-associated comorbidities. Despite disease detection through newborn screening and introduction of MNT as early as birth, adherence to MNT often deteriorates from childhood onwards, complicating the assessment of its effectiveness in the long term. Via a modified Delphi process, consensus (\u226570% agreement) was sought on 19 statements among an international, multidisciplinary 13-member expert panel. After three iterative voting rounds, the panel achieved consensus on 17 statements related to the limitations of the long-term effectiveness of MNT (7), the burden of long-term reliance on MNT (4), and its potential long-term detrimental health effects (6). According to the expert panel, the effectiveness of MNT is limited in the long term, is associated with a high treatment burden, and demonstrates that adults with PKU are often unable to achieve metabolic control through dietary management alone, creating an unmet need in the adult PKU population.<\/jats:p>","DOI":"10.3390\/nu15183940","type":"journal-article","created":{"date-parts":[[2023,9,12]],"date-time":"2023-09-12T03:54:06Z","timestamp":1694490846000},"page":"3940","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria"],"prefix":"10.3390","volume":"15","author":[{"given":"J\u00falio C\u00e9sar","family":"Rocha","sequence":"first","affiliation":[{"name":"NOVA Medical School, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade NOVA de Lisboa, Campo M\u00e1rtires da P\u00e1tria 130, 1169-056 Lisboa, Portugal"},{"name":"Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universit\u00e1rio de Lisboa Central, Rua Jacinta Marto, 1169-045 Lisboa, Portugal"},{"name":"CINTESIS@RISE, Nutrition and Metabolism, NOVA Medical School, Faculdade de Ci\u00eancias M\u00e9dicas, NMS, FCM, Universidade NOVA de Lisboa, Campo M\u00e1rtires da P\u00e1tria 130, 1169-056 Lisboa, Portugal"}]},{"given":"Kirsten K.","family":"Ahring","sequence":"additional","affiliation":[{"name":"Departments of Paediatrics and Clinical Genetics, PKU Clinic, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark"}]},{"given":"Heather","family":"Bausell","sequence":"additional","affiliation":[{"name":"Division of Genetics, Genomics, and Metabolism, Ann & Robert H Lurie Children\u2019s Hospital of Chicago, 225 E. Chicago Ave., Chicago, IL 60611, USA"}]},{"given":"Deborah A.","family":"Bilder","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Division of Child & Adolescent Psychiatry, University of Utah Huntsman Mental Health Institute, 501 Chipeta Way, Salt Lake City, UT 84108, USA"}]},{"given":"Cary O.","family":"Harding","sequence":"additional","affiliation":[{"name":"Department of Molecular and Medical Genetics, Oregon Health & Science University, 3222 SW Research Drive, Portland, OR 97239, USA"}]},{"given":"Anita","family":"Inwood","sequence":"additional","affiliation":[{"name":"Queensland Lifespan Metabolic Medicine Service, Queensland Children\u2019s Hospital, 501 Stanley St., South Brisbane, QLD 4101, Australia"},{"name":"School of Nursing and Social Work, The University of Queensland, Chamberlain Building, St. Lucia, QLD 4072, Australia"}]},{"given":"Nicola","family":"Longo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, 295 Chipeta Way, Salt Lake City, UT 84108, USA"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2900-8378","authenticated-orcid":false,"given":"Ania C.","family":"Muntau","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Children\u2019s Hospital, University Medical Centre Hamburg-Eppendorf, Martinistra\u00dfe 52, 20246 Hamburg, Germany"}]},{"given":"Andr\u00e9 L. Santos","family":"Pessoa","sequence":"additional","affiliation":[{"name":"Albert Sabin Children\u2019s Hospital, R. Tertuliano Sales, 544\u2014Vila Uni\u00e3o, Fortaleza 60410-794, CE, Brazil"},{"name":"Av. Dr. Silas Munguba, 1700\u2014Itaperi, State University of Cear\u00e1 (UECE), Fortaleza 60714-903, CE, Brazil"}]},{"given":"Fran","family":"Rohr","sequence":"additional","affiliation":[{"name":"Met Ed, Boulder, CO 80302, USA"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8260-9984","authenticated-orcid":false,"given":"Serap","family":"Sivri","sequence":"additional","affiliation":[{"name":"Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Gevher Nesibe Cd., 06230 Ankara, Turkey"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3757-262X","authenticated-orcid":false,"given":"\u00c1lvaro","family":"Hermida","sequence":"additional","affiliation":[{"name":"Diagnosis and Treatment of Congenital Metabolic Diseases Unit (UDyTEMC), Department of Pediatrics, Faculty of Medicine, Clinical University Hospital of Santiago de Compostela, University of Santiago de Compostela, CIBERER, MetabERN, Institute of Clinical Research of Santiago de Compostela (IDIS), R\u00faa de San Francisco s\/n, 15706 Santiago de Compostela, Spain"}]}],"member":"1968","published-online":{"date-parts":[[2023,9,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1186\/s13023-017-0685-2","article-title":"The complete European guidelines on phenylketonuria: Diagnosis and treatment","volume":"12","author":"MacDonald","year":"2017","journal-title":"Orphanet J. 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