{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T02:27:53Z","timestamp":1778898473597,"version":"3.51.4"},"reference-count":15,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T00:00:00Z","timestamp":1698364800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Health Research on Children, Youth and Families","award":["H29-Sukoyaka\u2013Shitei-001"],"award-info":[{"award-number":["H29-Sukoyaka\u2013Shitei-001"]}]},{"name":"Health Research on Children, Youth and Families","award":["23FC1033"],"award-info":[{"award-number":["23FC1033"]}]},{"name":"Health Research on Children, Youth and Families","award":["JP20ek0109482"],"award-info":[{"award-number":["JP20ek0109482"]}]},{"name":"Health Research on Children, Youth and Families","award":["JP23ek0109636"],"award-info":[{"award-number":["JP23ek0109636"]}]},{"name":"Research on Rare and Intractable Diseases","award":["H29-Sukoyaka\u2013Shitei-001"],"award-info":[{"award-number":["H29-Sukoyaka\u2013Shitei-001"]}]},{"name":"Research on Rare and Intractable Diseases","award":["23FC1033"],"award-info":[{"award-number":["23FC1033"]}]},{"name":"Research on Rare and Intractable Diseases","award":["JP20ek0109482"],"award-info":[{"award-number":["JP20ek0109482"]}]},{"name":"Research on Rare and Intractable Diseases","award":["JP23ek0109636"],"award-info":[{"award-number":["JP23ek0109636"]}]},{"DOI":"10.13039\/100009619","name":"Practical Research Project for Rare\/Intractable Diseases from the Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["H29-Sukoyaka\u2013Shitei-001"],"award-info":[{"award-number":["H29-Sukoyaka\u2013Shitei-001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Practical Research Project for Rare\/Intractable Diseases from the Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["23FC1033"],"award-info":[{"award-number":["23FC1033"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Practical Research Project for Rare\/Intractable Diseases from the Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP20ek0109482"],"award-info":[{"award-number":["JP20ek0109482"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Practical Research Project for Rare\/Intractable Diseases from the Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP23ek0109636"],"award-info":[{"award-number":["JP23ek0109636"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Morinaga Hoshi-Kai Foundation","award":["H29-Sukoyaka\u2013Shitei-001"],"award-info":[{"award-number":["H29-Sukoyaka\u2013Shitei-001"]}]},{"name":"Morinaga Hoshi-Kai Foundation","award":["23FC1033"],"award-info":[{"award-number":["23FC1033"]}]},{"name":"Morinaga Hoshi-Kai Foundation","award":["JP20ek0109482"],"award-info":[{"award-number":["JP20ek0109482"]}]},{"name":"Morinaga Hoshi-Kai Foundation","award":["JP23ek0109636"],"award-info":[{"award-number":["JP23ek0109636"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Carnitine palmitoyltransferase (CPT) II deficiency is a long-chain fatty acid oxidation disorder. It manifests as (1) a lethal neonatal form, (2) a hypoglycemic form, or (3) a myopathic form. The second form can cause sudden infant death and is more common among Japanese people than in other ethnic groups. Our study group had earlier used (C16 + C18:1)\/C2 to conduct a pilot newborn screening (NBS) study, and found that the use of C14\/C3 for screening yielded lower rates of false positivity; in 2018, as a result, nationwide NBS for CPT II deficiency started. In this study, we evaluated the utility of these ratios in 71 NBS-positive infants and found that the levels of both C14\/C3 and (C16 + C18:1)\/C2 in patients overlapped greatly with those of infants without the disease. Among the levels of acylcarnitines with various chain lengths (C18 to C2) and levels of free carnitine (C0) as well as their ratios of various patterns, C12\/C0 appeared to be a promising index that could reduce false-positive results without missing true-positive cases detected by current indices. Although some cases of the myopathic form may go undetected even with C12\/C0, its use will help prevent life-threatening onset of the hypoglycemic form of CPT II deficiency.<\/jats:p>","DOI":"10.3390\/ijns9040062","type":"journal-article","created":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T11:50:18Z","timestamp":1698407418000},"page":"62","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Newborn Screening with (C16 + C18:1)\/C2 and C14\/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12\/C0 as an Index of Higher Sensitivity and Specificity"],"prefix":"10.3390","volume":"9","author":[{"given":"Go","family":"Tajima","sequence":"first","affiliation":[{"name":"Division of Neonatal Screening, Research Institute, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan"},{"name":"Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiichi","family":"Hara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan"},{"name":"Department of Pediatrics, National Hospital Organization Kure Medical Center and Chugoku Cancer Center, 3-1 Aoyama-cho, Kure 737-0023, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8272-9588","authenticated-orcid":false,"given":"Miyuki","family":"Tsumura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7155-0673","authenticated-orcid":false,"given":"Reiko","family":"Kagawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fumiaki","family":"Sakura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan"},{"name":"Department of Technology Development, Kazusa DNA Research Institute, Kisarazu 292-0818, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7704-6259","authenticated-orcid":false,"given":"Hideo","family":"Sasai","sequence":"additional","affiliation":[{"name":"Department of Early Diagnosis and Preventive Medicine for Rare Intractable Pediatric Diseases, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu 501-1194, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miori","family":"Yuasa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medical Sciences, University of Fukui, 23-3 Matsuoka-Shimoaizuki, Eiheiji-cho, Fukui 910-1193, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yosuke","family":"Shigematsu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medical Sciences, University of Fukui, 23-3 Matsuoka-Shimoaizuki, Eiheiji-cho, Fukui 910-1193, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4622-5657","authenticated-orcid":false,"given":"Satoshi","family":"Okada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,10,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.jns.2013.12.026","article-title":"Carnitine palmitoyltransferase II (CPT II) deficiency: Genotype\u2013phenotype analysis of 50 patients","volume":"338","author":"Joshi","year":"2014","journal-title":"J. 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