{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T09:49:22Z","timestamp":1791971362366,"version":"4.3.4"},"reference-count":45,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T00:00:00Z","timestamp":1791936000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T00:00:00Z","timestamp":1791936000000},"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":["JIMD Reports"],"published-print":{"date-parts":[[2026,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Newborn screening (NBS) has significantly improved early detection and survival in fatty acid oxidation disorders (FAODs). However, the expanding phenotypic spectrum challenges prognostic stratification, and long\u2010term morbidity remains incompletely characterized. We conducted an observational, retrospective, single\u2010center study of patients with FAODs identified through NBS and followed between 2011 and 2024. Clinical, biochemical, genetic, and nutritional data were extracted from medical records. Correlations between biochemical markers, enzymatic activity, and clinical outcomes were analyzed. The study was approved by the Research Committee of the Instituto de Investigaci\u00f3n, Hospital 12 de Octubre (Madrid). Sixty\u2010five patients were included: 42 MCADD, 11 VLCADD, 5 LCHADD, 2 CPT1D, 3 CPT2D, 1 CACTD, and 1 MADD. Median age at last follow\u2010up was 7.2\u2009years (range 0.4\u201313.6). Two patients died during follow\u2010up (overall mortality 3.1%). In MCADD, confirmatory C8 concentrations correlated with residual enzyme activity and metabolic decompensations. In VLCADD, NBS and confirmatory C14:1 levels correlated with enzyme activity but not with clinical severity. VLCADD showed marked clinical heterogeneity, whereas LCHADD patients had the highest disease burden and required the most intensive nutritional management. Overall, 40% of patients experienced at least one metabolic decompensation, occurring significantly more frequently in LC\u2010FAOD than in MCADD. Neuropsychological manifestations were observed in 16.9% of patients. In summary, NBS markedly improves survival in FAODs, but morbidity remains substantial, particularly in LC\u2010FAOD. Current biochemical markers are useful for early risk stratification but remain insufficient to predict long\u2010term clinical severity. These findings support individualized multidisciplinary follow\u2010up, including specialized nutritional care and systematic neuropsychological assessment.<\/jats:p>","DOI":"10.1002\/jmd2.70132","type":"journal-article","created":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T09:02:26Z","timestamp":1791968546000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Fatty Acid Oxidation Disorders Detected by Newborn Screening: Clinical, Biochemical and Genetic Spectrum in a Single\u2010Center Cohort"],"prefix":"10.1002","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0656-7660","authenticated-orcid":false,"given":"Elena","family":"Mart\u00edn\u2010Hern\u00e1ndez","sequence":"first","affiliation":[{"name":"Departamento de Pediatr\u00eda, Hospital Universitario 12 de Octubre, National Reference Center (CSUR) for Inherited Metabolic Diseases Unidad de Enfermedades Metab\u00f3licas\u2010Mitocondriales  Madrid Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria Hospital 12 de Octubre (imas12)  Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), U723, Instituto de Salud Carlos III (ISCIII)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delia","family":"Barrio\u2010Carreras","sequence":"additional","affiliation":[{"name":"Departamento de Pediatr\u00eda, Hospital Universitario 12 de Octubre, National Reference Center (CSUR) for Inherited Metabolic Diseases Unidad de Enfermedades Metab\u00f3licas\u2010Mitocondriales  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Mart\u00edn\u2010Caza\u00f1a","sequence":"additional","affiliation":[{"name":"Departamento de Pediatr\u00eda, Hospital Universitario 12 de Octubre, National Reference Center (CSUR) for Inherited Metabolic Diseases Unidad de Enfermedades Metab\u00f3licas\u2010Mitocondriales  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-1418-6166","authenticated-orcid":false,"given":"Luis Miguel","family":"Garc\u00eda\u2010C\u00e1rdaba","sequence":"additional","affiliation":[{"name":"Departamento de Pediatr\u00eda, Hospital Universitario 12 de Octubre, National Reference Center (CSUR) for Inherited Metabolic Diseases Unidad de Enfermedades Metab\u00f3licas\u2010Mitocondriales  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Mart\u00edn\u2010Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Departamento de Pediatr\u00eda, Hospital Universitario 12 de Octubre, National Reference Center (CSUR) for Inherited Metabolic Diseases Unidad de Enfermedades Metab\u00f3licas\u2010Mitocondriales  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"P\u00e9rez\u2010Mohand","sequence":"additional","affiliation":[{"name":"Departamento de Pediatr\u00eda, Hospital Universitario 12 de Octubre, National Reference Center (CSUR) for Inherited Metabolic Diseases Unidad de Enfermedades Metab\u00f3licas\u2010Mitocondriales  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa Hern\u00e1ndez","family":"Chamorro","sequence":"additional","affiliation":[{"name":"Departamento de Pediatr\u00eda, Hospital Universitario 12 de Octubre, National Reference Center (CSUR) for Inherited Metabolic Diseases Unidad de Enfermedades Metab\u00f3licas\u2010Mitocondriales  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berta Zamora","family":"Crespo","sequence":"additional","affiliation":[{"name":"Departamento de Pediatr\u00eda, Hospital Universitario 12 de Octubre, National Reference Center (CSUR) for Inherited Metabolic Diseases Unidad de Enfermedades Metab\u00f3licas\u2010Mitocondriales  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1785-4988","authenticated-orcid":false,"given":"Pedro","family":"Ruiz\u2010Sala","sequence":"additional","affiliation":[{"name":"Centro de Diagn\u00f3stico de Enfermedades Moleculares (CEDEM), Universidad Aut\u00f3noma de Madrid. 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