{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T17:22:13Z","timestamp":1788456133646,"version":"build-2803163510"},"reference-count":72,"publisher":"JMIR Publications Inc.","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Online J Public Health Inform"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec sec-type=\"background\">\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism, and if untreated, leads to severe neurocognitive impairment. Over the past 2 decades, treatment strategies have evolved from strict dietary phenylalanine restriction to include pharmacological therapies such as tetrahydrobiopterin and, more recently, enzyme substitution with pegvaliase. Despite these advances, significant heterogeneity exists in global research priorities, collaboration patterns, and the translation of emerging therapies into clinical practice. A systematic overview of the field\u2019s development, thematic shifts, and remaining knowledge gaps is currently lacking.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec sec-type=\"objective\">\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>This study aimed to provide a systematic bibliometric analysis of global treatment research on PKU from 2000 to 2025. The aim was to quantify publication trends, collaboration patterns, thematic evolution, and research gaps, thereby informing future scientific and clinical directions.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec sec-type=\"methods\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A search of the Web of Science Core Collection was performed on September 13, 2025. The search initially identified 1877 records. After screening, 1462 English-language articles and reviews were included. Publication trends were analyzed using Microsoft Excel (version 16.101), while VOSviewer 1.6.20 and CiteSpace 6.4R1 were used to visualize country- and institutional-level collaborations, journal networks, keyword co-occurrence, citation bursts, and thematic clusters. Statistical charts were generated with GraphPad Prism 10.2.1.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec sec-type=\"results\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Annual publication output demonstrated an overall upward trend, peaking in 2022 with 111 publications. The United States led in both publication volume (375 studies) and total citations (11,142 citations), maintaining strong collaborative ties with several European countries, particularly the Netherlands and the United Kingdom. China ranked seventh globally in publication volume, although its citation impact remains comparatively limited. Key institutions, including the University of Groningen and Birmingham Children\u2019s Hospital, as well as prominent scholars such as Francjan J van Spronsen and Anita MacDonald, have occupied central positions in the global PKU treatment research collaboration network over the study period. High-frequency and high-centrality keywords, such as \u201cphenylalanine,\u201d \u201cdietary treatment,\u201d and \u201ctetrahydrobiopterin,\u201d highlighted continued emphasis on metabolic control and targeted therapies. Keyword burst analysis revealed a gradual shift from conventional dietary management toward enzyme replacement therapies, investigations of neurocognitive outcomes, and precision medicine\u2013oriented approaches.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec sec-type=\"conclusions\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Over the past 25 years, PKU treatment research has progressed from foundational dietary interventions to molecular mechanistic studies and individualized therapeutic strategies. Future research should prioritize longitudinal multiomics investigations, targeted metabolic correction technologies, gene-based therapeutic approaches, and enhanced international collaboration, particularly to strengthen diagnosis and management capacities in low- and middle-income regions. Such efforts will be critical to advancing global standards of PKU care.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.2196\/90419","type":"journal-article","created":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T06:55:05Z","timestamp":1781160905000},"page":"e90419-e90419","source":"Crossref","is-referenced-by-count":0,"title":["Global Trends in Phenylketonuria Treatment Research, 2000-2025: Bibliometric Analysis"],"prefix":"10.2196","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-4473-0894","authenticated-orcid":false,"given":"Sitong","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3461-6033","authenticated-orcid":false,"given":"Kaichao","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-7453-9658","authenticated-orcid":false,"given":"Qingbo","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1173-685X","authenticated-orcid":false,"given":"Jiandong","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-7186-5251","authenticated-orcid":false,"given":"Lulu","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1010","published-online":{"date-parts":[[2026,9,3]]},"reference":[{"issue":"9750","key":"R1","doi-asserted-by":"publisher","first-page":"1417","DOI":"10.1016\/S0140-6736(10)60961-0","article-title":"Phenylketonuria","volume":"376","author":"Blau","journal-title":"Lancet"},{"issue":"1","key":"R2","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1038\/s41572-021-00267-0","article-title":"Phenylketonuria","volume":"7","author":"van Spronsen","journal-title":"Nat Rev Dis Primers"},{"key":"R3","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2022.10.046","article-title":"Cost-effectiveness of newborn screening for phenylketonuria and congenital hypothyroidism","volume":"256","author":"Appelberg","journal-title":"J Pediatr"},{"issue":"1","key":"R4","doi-asserted-by":"publisher","DOI":"10.1007\/s10792-025-03700-5","article-title":"How has global research on neural degeneration in glaucoma evolved from 1977 to 2025? 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