{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T13:06:19Z","timestamp":1784639179734,"version":"3.55.0"},"reference-count":30,"publisher":"Walter de Gruyter GmbH","license":[{"start":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T00:00:00Z","timestamp":1782777600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Istanbul Un\u0131versity Scientific Research Projects Coordination Un\u0131t","award":["TDK-2025-41449"],"award-info":[{"award-number":["TDK-2025-41449"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2026-0112_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by phenylalanine hydroxylase deficiency, leading to elevated phenylalanine (Phe) levels in blood and brain. Lifelong dietary treatment is required to prevent neurotoxicity, yet adherence often declines during adulthood. This study aimed to evaluate follow-up and treatment adherence in adults with PKU and to explore strategies to improve long-term metabolic control.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2026-0112_abs_002\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This cross-sectional study included adult PKU patients followed at the Division of Pediatric Nutrition and Metabolism, Istanbul Medical Faculty. Data were collected between April and July 2021 using retrospective medical records and online questionnaires. Follow-up and treatment success rates were assessed according to blood Phe monitoring frequency and results within the target range. Participants completed the Adult Attention Deficit Hyperactivity Disorder Self-Report Scale and the Phenylketonuria Quality of Life Questionnaire.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2026-0112_abs_003\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Data were collected from 134 of the 198 registered patients. The average age was 23.25\u00a0\u00b1\u00a02.92 years, and 50\u202f% were female. Classical PKU was present in 68.7\u202f%. Patients with classical PKU demonstrated higher follow-up success than those with mild PKU. Individuals who self-managed their diet showed significantly higher follow-up and treatment success. No significant associations were observed between success rates and age at diagnosis, residence, working status, family education, or ADHD scores. A significant negative correlation was found between success rates and quality-of-life subdomains related to dietary management and daily life burden.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2026-0112_abs_004\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Treatment success in adults with PKU may be improved by promoting dietary self-management, increasing awareness of treatment options, facilitating dietary implementation, and reducing disease-related burden. This study demonstrates that in adults with phenylketonuria, follow-up and treatment success are primarily influenced by disease severity and patients\u2019 ability to self-manage their diet, highlighting the need for strategies that reduce daily disease burden and support long-term dietary adherence.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2026-0112","type":"journal-article","created":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T11:55:28Z","timestamp":1782734128000},"source":"Crossref","is-referenced-by-count":0,"title":["Factors affecting the success of follow-up and treatment of adults with phenylketonuria diagnosed by newborn screening"],"prefix":"10.1515","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6762-2064","authenticated-orcid":false,"given":"Zelal","family":"Tando\u011fan","sequence":"first","affiliation":[{"name":"Department of Child Health and Diseases , Institute of Health Sciences, Istanbul University, Nutrition Ph.D Programme , Istanbul , T\u00fcrkiye"},{"name":"Faculty of Medicine, Pediatric Nutrition and Metabolism Division, Istanbul University , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asuman","family":"Gedikba\u015f\u0131","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Pediatric Nutrition and Metabolism Division, Istanbul University , Istanbul , T\u00fcrkiye"},{"name":"Department of Basic Sciences , Child Health Institute, Division of Genetics, Istanbul University , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alihan","family":"Ye\u015fil","sequence":"additional","affiliation":[{"name":"Department of Basic Sciences , Child Health Institute, Division of Genetics, Istanbul University , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet Cihan","family":"Balc\u0131","sequence":"additional","affiliation":[{"name":"Department of Basic Sciences , Child Health Institute, Division of Genetics, Istanbul University , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meryem","family":"Karaca","sequence":"additional","affiliation":[{"name":"Department of Basic Sciences , Child Health Institute, Division of Genetics, Istanbul University , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7264-038X","authenticated-orcid":false,"given":"Arzu","family":"Selamio\u011flu","sequence":"additional","affiliation":[{"name":"Department of Rare Diseases , Institute of Health Sciences, Istanbul University , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tu\u011fba","family":"Kozano\u011flu","sequence":"additional","affiliation":[{"name":"Department of Basic Sciences , Child Health Institute, Division of Genetics, Istanbul University , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00fcbeccel","family":"Demirkol","sequence":"additional","affiliation":[{"name":"Department of Basic Sciences , Child Health Institute, Division of Genetics, Istanbul University , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fclden Fatma","family":"G\u00f6k\u00e7ay","sequence":"additional","affiliation":[{"name":"Department of Basic Sciences , Child Health Institute, Division of Genetics, Istanbul University , Istanbul , T\u00fcrkiye"},{"name":"Department of Rare Diseases , Institute of Health Sciences, Istanbul University , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,6,30]]},"reference":[{"key":"2026072112553648316_j_jpem-2026-0112_ref_001","unstructured":"Stone, WL, Los, E. 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Fenilketon\u00fcri hastalar\u0131n\u0131n sosyal ya\u015famda kar\u015f\u0131la\u015ft\u0131klar\u0131 zorluklar: niteliksel bir ara\u015ft\u0131rma ac\u0131badem \u00dcniversitesi sa\u011fl\u0131k. Bilimleri Dergisi 2019;10:763\u20139.","DOI":"10.31067\/0.2019.227"},{"key":"2026072112553648316_j_jpem-2026-0112_ref_022","doi-asserted-by":"crossref","unstructured":"Riva, MA, Madotto, F, Turato, M, Salvatici, E, Indovina, S, Giovannini, M, et al.. Work activity and phenylalanine levels in a population of young adults with classic PKU. Med Lav 2017;108:118\u201322. https:\/\/doi.org\/10.23749\/mdl.v108i2.5984.","DOI":"10.23749\/mdl.v108i2.5984"},{"key":"2026072112553648316_j_jpem-2026-0112_ref_023","doi-asserted-by":"crossref","unstructured":"Freehauf, C, Van Hove, JL, Gao, D, Bernstein, L, Thomas, JA. Impact of geographic access to care on compliance and metabolic control in phenylketonuria. 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