{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T00:10:18Z","timestamp":1791850218093,"version":"4.3.4"},"reference-count":20,"publisher":"Walter de Gruyter GmbH","issue":"2","funder":[{"name":"Fujian Provincial Society of Laboratory Medicine and National (Fujian) Genetic Testing Technology Application Demonstration Center","award":["2023LHYC040"],"award-info":[{"award-number":["2023LHYC040"]}]},{"name":"Quanzhou City Science and Technology Program of China","award":["2021C052R"],"award-info":[{"award-number":["2021C052R"]}]},{"name":"Joint Innovation Project of Huaqiao University","award":["2021YX003"],"award-info":[{"award-number":["2021YX003"]}]},{"DOI":"10.13039\/501100003392","name":"Natural Science Foundation of Fujian Province","doi-asserted-by":"crossref","award":["2021J01538"],"award-info":[{"award-number":["2021J01538"]}],"id":[{"id":"10.13039\/501100003392","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,2,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2023-0513_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Newborn screening (NBS) for primary carnitine deficiency (PCD) exhibits suboptimal performance. This study proposes a strategy to enhance the efficacy of second-tier genetic screening by adjusting the cutoff value for free carnitine (C0).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0513_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Between January 2021 and December 2022, we screened 119,898 neonates for inborn metabolic disorders. Neonates with C0 levels below 12\u202f\u03bcmol\/L were randomly selected for second-tier genetic screening, employing a novel matrix-assisted laser desorption\/ionization-time of flight mass spectrometry (MALDI-TOF MS) assay.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0513_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>In total, 2,515 neonates with C0 &lt;12\u202f\u03bcmol\/L underwent further screening, including 206 neonates with C0 &lt;8.5\u202f\u03bcmol\/L and 320 neonates with 8.5&lt;C0&lt;12\u202f\u03bcmol\/L. Genetic screening identified positive results in 12.36\u202f% (65) of neonates, with one being homozygous, 10 compound heterozygotes, and 54 heterozygotes. Sanger sequencing revealed a second SLC22A5 variant in three of the 54 neonates. Ultimately, 14 patients were diagnosed with PCD; all 14 patients exhibited low C0 levels, though two had normal C0 levels during the recall review. The MALDI-TOF MS assay demonstrated detection and diagnostic rates of 89.29\u202f% and 78.57\u202f%, respectively. Eleven distinct <jats:italic>SLC22A5<\/jats:italic> variants were identified, with the most common variant being c.51C&gt;G, accounting for 25\u202f% (7\/28) of allelic frequencies.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0513_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>A novel MALDI-TOF MS assay targeting 21 <jats:italic>SLC22A5<\/jats:italic> variants in a Chinese population was successfully established. This assay exhibits a high detection and diagnostic rate, making it suitable for population-based genetic screening. Combined genetic screening is recommended to enhance the efficiency of PCD\u2013NBS.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2023-0513","type":"journal-article","created":{"date-parts":[[2023,12,30]],"date-time":"2023-12-30T05:20:31Z","timestamp":1703913631000},"page":"163-169","source":"Crossref","is-referenced-by-count":5,"title":["Newborn screening for primary carnitine deficiency using a second-tier genetic test"],"prefix":"10.1515","volume":"37","author":[{"given":"Yiming","family":"Lin","sequence":"first","affiliation":[{"name":"Department of Clinical Laboratory , Quanzhou Maternity and Children\u2019s Hospital , Quanzhou , Fujian Province , P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunmei","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory , Quanzhou Maternity and Children\u2019s Hospital , Quanzhou , Fujian Province , P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenzhu","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory , Quanzhou Maternity and Children\u2019s Hospital , Quanzhou , Fujian Province , P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chenggang","family":"Huang","sequence":"additional","affiliation":[{"name":"Zhejiang Biosan Biochemical Technologies Co., Ltd. , Hangzhou , Zhejiang Province , P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weilin","family":"Peng","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory , Quanzhou Maternity and Children\u2019s Hospital , Quanzhou , Fujian Province , P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2024,1,1]]},"reference":[{"key":"2024021417134792286_j_jpem-2023-0513_ref_001","doi-asserted-by":"crossref","unstructured":"Tang, NL, Ganapathy, V, Wu, X, Hui, J, Seth, P, Yuen, PM, et al.. Mutations of OCTN2, an organic cation\/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. Hum Mol Genet 1999;8:655\u201360, https:\/\/doi.org\/10.1093\/hmg\/8.4.655.","DOI":"10.1093\/hmg\/8.4.655"},{"key":"2024021417134792286_j_jpem-2023-0513_ref_002","doi-asserted-by":"crossref","unstructured":"Nezu, J, Tamai, I, Oku, A, Ohashi, R, Yabuuchi, H, Hashimoto, N, et al.. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. 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