{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T00:28:29Z","timestamp":1767832109866,"version":"3.49.0"},"reference-count":33,"publisher":"Walter de Gruyter GmbH","issue":"7","license":[{"start":{"date-parts":[[2021,4,12]],"date-time":"2021-04-12T00:00:00Z","timestamp":1618185600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"National \u201cThirteenth Five-Year\u201d Key Technologies R&D Program","award":["2017YFC1001704"],"award-info":[{"award-number":["2017YFC1001704"]}]},{"name":"National Key Research and Development Program of China","award":["2018YFC1002200"],"award-info":[{"award-number":["2018YFC1002200"]}]},{"name":"Special Foundation for State Basic Research Program of China","award":["2014FY110700"],"award-info":[{"award-number":["2014FY110700"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,7,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0077_abs_001\">\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Tetrahydrobiopterin deficiency (BH4D), a less common form of hyperphenylalaninemia (HPA), can lead to severe developmental retardation if untreated. Little has been reported on the prevalence of BH4D among live births worldwide. This study examined its prevalence across China and between geographical areas within the country.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0077_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We analyzed data from the Chinese national screening program for HPA in newborns between 2013 and 2019. BH4D prevalence was examined by province, region and the entire country. Provincial-level prevalence was estimated from the number of confirmed BH4D cases and screened newborns, after adjusting for HPA-positive recall rate. Regional- and national-level prevalences were estimated by summing provincial-level prevalences after weighting them by the number of live births. A Poisson distribution was assumed in order to calculate 95% confidence intervals (CIs) for prevalence.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0077_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Among 107,078,115 newborns screened for HPA in China, 380 with BH4D were identified, corresponding to a total prevalence of 3.8 per 1,000,000 live births. Prevalence was higher in eastern regions (5.9 per 1,000,000) and northern regions (4.1 per 1,000,000) of China than in southern regions (1.6 per 1,000,000) or northwestern regions (1.7 per 1,000,000). Across the entire country, 3.9% cases of HPA were diagnosed as BH4D, and this proportion reached as high as 15.1% in the southern part of the country.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0077_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>These first insights into BH4D prevalence across China suggest slightly higher prevalence than in other countries, and it varies substantially by region. More attention should be paid to early diagnosis and timely treatment of BH4D.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0077","type":"journal-article","created":{"date-parts":[[2021,4,10]],"date-time":"2021-04-10T20:12:38Z","timestamp":1618085558000},"page":"835-841","source":"Crossref","is-referenced-by-count":14,"title":["Birth prevalence of tetrahydrobiopterin deficiency in China: data from the national newborn screening program, 2013\u20132019"],"prefix":"10.1515","volume":"34","author":[{"given":"Xuelian","family":"Yuan","sequence":"first","affiliation":[{"name":"National Center for Birth Defects Monitoring of China , West China Second University Hospital, Sichuan University , Chengdu , Sichuan , P. R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Zhu","sequence":"additional","affiliation":[{"name":"National Center for Birth Defects Monitoring of China , West China Second University Hospital, Sichuan University , Chengdu , Sichuan , P. R. China"},{"name":"Department of Obstetrics, National Office for Maternal and Child Health Surveillance of China , West China Second University Hospital, Sichuan University , Chengdu , Sichuan , P. R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanmin","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, West China Second University Hospital , Sichuan University , Chengdu , Sichuan , P. R. China"},{"name":"Department of Obstetrics, Sichuan Birth Defects Clinical Research Center , West China Second University Hospital, Sichuan University , Chengdu , Sichuan , P. R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liangcheng","family":"Xiang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, National Office for Maternal and Child Health Surveillance of China , West China Second University Hospital, Sichuan University , Chengdu , Sichuan , P. R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongna","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, National Office for Maternal and Child Health Surveillance of China , West China Second University Hospital, Sichuan University , Chengdu , Sichuan , P. R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qi","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, National Office for Maternal and Child Health Surveillance of China , West China Second University Hospital, Sichuan University , Chengdu , Sichuan , P. R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kui","family":"Deng","sequence":"additional","affiliation":[{"name":"National Center for Birth Defects Monitoring of China , West China Second University Hospital, Sichuan University , Chengdu , Sichuan , P. R. China"},{"name":"Department of Obstetrics, National Office for Maternal and Child Health Surveillance of China , West China Second University Hospital, Sichuan University , Chengdu , Sichuan , P. R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaohong","family":"Li","sequence":"additional","affiliation":[{"name":"National Center for Birth Defects Monitoring of China , West China Second University Hospital, Sichuan University , Chengdu , Sichuan , P. R. China"},{"name":"Department of Obstetrics, Sichuan Birth Defects Clinical Research Center , West China Second University Hospital, Sichuan University , Chengdu , Sichuan , P. R. China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) , Ministry of Education , Chengdu , P. R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2021,4,12]]},"reference":[{"key":"2023040101233469931_j_jpem-2021-0077_ref_001","unstructured":"Chinese Society of Pediatirc Endocrinology and Metabolism AgoNSoB-DPaCoCPMA. Consensus on diagnosis and treatment of hyperphenylalaninemia. Chin J Pediatr 2014;52:420\u20135."},{"key":"2023040101233469931_j_jpem-2021-0077_ref_002","doi-asserted-by":"crossref","unstructured":"Zurfluh, MR, Giovannini, M, Fiori, L, Fiege, B, Gokdemir, Y, Baykal, T, et al.. Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. 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