{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T05:47:27Z","timestamp":1785822447848,"version":"3.56.0"},"reference-count":34,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T00:00:00Z","timestamp":1785801600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Phenylketonuria, a rare genetic metabolic disorder, can cause various complications and severe impairments to patients' health-related quality of life (HRQoL). However, most evidence comes from Western populations, which may not apply to China due to differing healthcare systems and cultures. Thus, this study evaluated HRQoL in Chinese PKU patients and its key influencing factors to inform tailored policies and clinical interventions.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In 2025, a cross-sectional study included PKU patients across China. The study population was recruited from the Rare Disease Diagnosis and Treatment Collaborative Network Hospitals. An online survey with the EQ-5D collected sociodemographic and clinical data; descriptive statistics summarized participant traits and HRQoL, while Tobit and OLS regression analyses factors affecting HRQoL.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>This study included 196 valid questionnaires from Chinese PKU patients. The patients had a mean age of 9.48 years, and 54.59% were male. Most patients (62.24%) were from rural areas, and 85.71% had a primary school education or lower. Among the participating families, 47.96% reported an annual income of \u00a510,000\u201350,000. The mean EQ-5D health utility score (HUS) was 0.91, and the mean EuroQoL visual analogue scale (EQ-VAS) score was 77.07. Multiple linear regression showed lower HUS was linked to disability and complications, while VAS was associated with treatment compliance, discrimination, disability, and complications.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our study revealed that Chinese PKU patients have relatively high HRQoL, with mean HUS and VAS scores being slightly lower than those of the general Chinese population. However, patients with disabilities, complications, and those experiencing discrimination had significantly lower HRQoL scores. These influence factors provide valuable insights to guide improvements in the HRQoL of PKU patients.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fped.2026.1887078","type":"journal-article","created":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T05:38:54Z","timestamp":1785821934000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Health-related quality of life and its influencing factors in Chinese patients with phenylketonuria"],"prefix":"10.3389","volume":"14","author":[{"given":"Hao","family":"Ding","sequence":"first","affiliation":[{"name":"Department of Rare Disease Policy Research, China Alliance for Rare Diseases","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiayin","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Rare Disease Policy Research, China Alliance for Rare Diseases","place":["Beijing, China"]},{"name":"Vanke School of Public Health, Tsinghua University","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiemin","family":"Zhai","sequence":"additional","affiliation":[{"name":"Department of Health Economics and Health Security Research, National Health Commission Health Development Research Center","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linkang","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Rare Disease Policy Research, China Alliance for Rare Diseases","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Guo","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kun","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Rare Disease Policy Research, China Alliance for Rare Diseases","place":["Beijing, China"]},{"name":"Department of Health Economics and Health Security Research, National Health Commission Health Development Research Center","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,8,4]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1016\/S0140-6736(13)61841-3","article-title":"Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicenter, phase 1 dose-escalation trial","volume":"384","author":"Longo","year":"2014","journal-title":"Lancet"},{"key":"B2","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1186\/s13023-017-0685-2","article-title":"The complete European guidelines on phenylketonuria: diagnosis and treatment","volume":"12","author":"Van Wegberg","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"B3","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1038\/s41572-021-00267-0","article-title":"Phenylketonuria","volume":"7","author":"Van Spronsen","year":"2021","journal-title":"Nat Rev Dis Primers"},{"key":"B4","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1186\/s13023-015-0283-0","article-title":"Phenylketonuria screening and management in Southeastern Europe\u2014survey results from 11 countries","volume":"10","author":"Zerjav Tansek","year":"2015","journal-title":"Orphanet J Rare Dis"},{"key":"B5","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1186\/s13023-015-0261-6","article-title":"Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on Patients\u2019 and parents\u2019 quality of life: the phenylketonuria\u2014quality of life (PKU-QOL) questionnaires","volume":"10","author":"Regnault","year":"2015","journal-title":"Orphanet J Rare Dis"},{"key":"B6","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1186\/s13023-024-03422-4","article-title":"What is known about patients\u2019 quality of life with phenylketonuria and their caregivers? 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