{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T07:06:45Z","timestamp":1775804805328,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,9,29]],"date-time":"2025-09-29T00:00:00Z","timestamp":1759104000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,9,29]],"date-time":"2025-09-29T00:00:00Z","timestamp":1759104000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    In this study, we aimed to assess clinical, laboratory and molecular features of newborns with clinical suspicion for systemic primary carnitine deficiency (CUD), medium\u2010chain acyl\u2010CoA dehydrogenase deficiency (MCADD) and very long\u2010chain acyl\u2010CoA dehydrogenase deficiency (VLCADD). The implementation of newborn screening programs for fatty acid \u03b2\u2010oxidation disorders (FAODs) has changed the natural course of these diseases, facilitating the initiation of preventive or therapeutic measures for affected newborns shortly after birth. This study included 94 newborns who were admitted between 2016 and 2023 because of biochemical signs of CUD, MCADD and VLCADD, and provided clinical, biochemical and genotypic data. Definitive molecular diagnosis confirmed that 16\/94 newborns (17%) were true positives of the NBS, and 17 novel variants were detected in\n                    <jats:italic>SLC22A5<\/jats:italic>\n                    ,\n                    <jats:italic>ACADM<\/jats:italic>\n                    and\n                    <jats:italic>ACADVL<\/jats:italic>\n                    genes. We assessed the clinical evolution of patients over time. This study expands the genotypic spectrum of\n                    <jats:italic>SLC22A5<\/jats:italic>\n                    ,\n                    <jats:italic>ACADM<\/jats:italic>\n                    and\n                    <jats:italic>ACADVL<\/jats:italic>\n                    and highlights the role of genetics in identifying and correctly characterising FAODs.\n                  <\/jats:p>","DOI":"10.1111\/cge.70083","type":"journal-article","created":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T02:40:33Z","timestamp":1759200033000},"page":"742-746","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid \u03b2\u2010Oxidation Disorders: Novel Variants in the\n                    <scp>\n                      <i>ACADM<\/i>\n                    <\/scp>\n                    ,\n                    <scp>\n                      <i>ACADVL<\/i>\n                    <\/scp>\n                    and\n                    <scp>\n                      <i>SLC22A5<\/i>\n                    <\/scp>\n                    Genes"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9104-4767","authenticated-orcid":false,"given":"Irene","family":"Hidalgo Mayoral","sequence":"first","affiliation":[{"name":"Metabolic Disease Laboratory, Genetics Department Hospital Universitario La Paz  Madrid Spain"},{"name":"Dyslipemias of Genetic Origin and Metabolic Diseases Group Hospital La Paz Institute for Health Research\u2014IdiPAZ  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda","family":"Herranz Cecilia","sequence":"additional","affiliation":[{"name":"Metabolic Disease Laboratory, Genetics Department Hospital Universitario La Paz  Madrid Spain"},{"name":"Dyslipemias of Genetic Origin and Metabolic Diseases Group Hospital La Paz Institute for Health Research\u2014IdiPAZ  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Rodr\u00edguez\u2010Jim\u00e9nez","sequence":"additional","affiliation":[{"name":"Metabolic Disease Laboratory, Genetics Department Hospital Universitario La Paz  Madrid Spain"},{"name":"Dyslipemias of Genetic Origin and Metabolic Diseases Group Hospital La Paz Institute for Health Research\u2014IdiPAZ  Madrid Spain"},{"name":"Next\u2010Generation Sequencing Section, Genetic Department Hospital Universitario La Paz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Carazo \u00c1lvarez","sequence":"additional","affiliation":[{"name":"Metabolic Disease Laboratory, Genetics Department Hospital Universitario La Paz  Madrid Spain"},{"name":"Dyslipemias of Genetic Origin and Metabolic Diseases Group Hospital La Paz Institute for Health Research\u2014IdiPAZ  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Bergua Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Nutrition and Metabolic Diseases Department Hospital Universitario La Paz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 David","family":"Andrade Guerrero","sequence":"additional","affiliation":[{"name":"Nutrition and Metabolic Diseases Department Hospital Universitario La Paz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Mor\u00e1is L\u00f3pez","sequence":"additional","affiliation":[{"name":"Nutrition and Metabolic Diseases Department Hospital Universitario La Paz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4225-3631","authenticated-orcid":false,"given":"Sonia","family":"Rodr\u00edguez\u2010N\u00f3voa","sequence":"additional","affiliation":[{"name":"Metabolic Disease Laboratory, Genetics Department Hospital Universitario La Paz  Madrid Spain"},{"name":"Dyslipemias of Genetic Origin and Metabolic Diseases Group Hospital La Paz Institute for Health Research\u2014IdiPAZ  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,9,29]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2014_324"},{"key":"e_1_2_9_3_1","volume-title":"Protocolos de diagn\u00f3stico y tratamiento de los errores cong\u00e9nitos del metabolismo","author":"Couce Pico M.l.","year":"2018"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg-2023-109206"},{"key":"e_1_2_9_5_1","volume-title":"GeneReviews [Internet]","author":"El\u2010Hattab A. 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L.","year":"2022","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2007.09.056"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp079"},{"key":"e_1_2_9_11_1","first-page":"75","article-title":"221 Newborn\u2010Screened Neonates With Medium\u2010Chain Acyl\u2010Coenzyme A Dehydrogenase Deficiency: Findings From the Inborn Errors of Metabolism Collaborative","volume":"119","author":"Vockley J.","year":"2017","journal-title":"Molecular Genetics and Metabolism"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2003.10.062"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.12.012"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2023.101002"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-022-31466-2"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/302261"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.09.008"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.05.007"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70083","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70083","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70083","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T06:16:23Z","timestamp":1775801783000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70083"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,29]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,4]]}},"alternative-id":["10.1111\/cge.70083"],"URL":"https:\/\/doi.org\/10.1111\/cge.70083","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.70083\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70083\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70083\/v1\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,29]]},"assertion":[{"value":"2025-08-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-22","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-29","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}