{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T23:46:10Z","timestamp":1780616770596,"version":"3.54.1"},"reference-count":122,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2025,1,26]],"date-time":"2025-01-26T00:00:00Z","timestamp":1737849600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Slovenian Research Agency","award":["P3-0343"],"award-info":[{"award-number":["P3-0343"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies have been a part of the Slovenian newborn screening (NBS) program since 2018. We describe a case of early lethal presentation of MTPD\/LCHADD in a term newborn. The girl was born after an uneventful pregnancy and delivery, and she was discharged home at the age of 3 days, appearing well. At the age of 4 days, she was found without signs of life. Resuscitation was not successful. The NBS test performed using tandem mass spectrometry (MS\/MS) showed a positive screen for MTPD\/LCHADD. Genetic analysis performed on a dried blood spot (DBS) sample identified two heterozygous variants in the HADHA gene: a nucleotide duplication introducing a premature termination codon (p.Arg205Ter) and a nucleotide substitution (p.Glu510Gln). Post-mortem studies showed massive macro-vesicular fat accumulation in the liver and, to a smaller extent, in the heart, consistent with MTPD\/LCHADD. A neonatal acute cardiac presentation resulting in demise was suspected. We conducted a systematic literature review of early neonatal deaths within 14 days postpartum attributed to confirmed fatty acid oxidation disorders (FAODs), which are estimated to account for 5% of sudden infant deaths. We discuss the pitfalls of the NBS for MTPD\/LCHADD.<\/jats:p>","DOI":"10.3390\/ijns11010009","type":"journal-article","created":{"date-parts":[[2025,1,28]],"date-time":"2025-01-28T08:57:48Z","timestamp":1738054668000},"page":"9","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein\/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0506-2919","authenticated-orcid":false,"given":"Ana","family":"Drole Torkar","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Diabetes and Metabolic Diseases, University Children\u2019s Hospital, Ljubljana University Medical Center, Bohoriceva 20, 1000 Ljubljana, Slovenia"},{"name":"Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-7958-9714","authenticated-orcid":false,"given":"Ana","family":"Klinc","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ziga Iztok","family":"Remec","sequence":"additional","affiliation":[{"name":"Clinical Institute for Special Laboratory Diagnostics, University Children\u2019s Hospital, Ljubljana University Medical Center, Vrazov trg 1, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0105-7669","authenticated-orcid":false,"given":"Branislava","family":"Rankovic","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia"},{"name":"Institute of Pathology, Faculty of Medicine, University of Ljubljana, Korytkova 2, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klara","family":"Bartolj","sequence":"additional","affiliation":[{"name":"Novo Mesto General Hospital, Smihelska cesta 1, 8000 Novo Mesto, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Bertok","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Diabetes and Metabolic Diseases, University Children\u2019s Hospital, Ljubljana University Medical Center, Bohoriceva 20, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Colja","sequence":"additional","affiliation":[{"name":"Clinical Institute for Special Laboratory Diagnostics, University Children\u2019s Hospital, Ljubljana University Medical Center, Vrazov trg 1, 1000 Ljubljana, 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Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-6499-8666","authenticated-orcid":false,"given":"Barbka","family":"Repic Lampret","sequence":"additional","affiliation":[{"name":"Clinical Institute for Special Laboratory Diagnostics, University Children\u2019s Hospital, Ljubljana University Medical Center, Vrazov trg 1, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matej","family":"Mlinaric","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Diabetes and Metabolic Diseases, University Children\u2019s Hospital, Ljubljana University Medical Center, Bohoriceva 20, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tinka","family":"Mohar Hajnsek","sequence":"additional","affiliation":[{"name":"Novo Mesto General Hospital, Smihelska cesta 1, 8000 Novo Mesto, 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Children\u2019s Hospital, Ljubljana University Medical Center, Vrazov trg 1, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domen","family":"Trampuz","sequence":"additional","affiliation":[{"name":"Clinical Institute for Special Laboratory Diagnostics, University Children\u2019s Hospital, Ljubljana University Medical Center, Vrazov trg 1, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blanka","family":"Ulaga","sequence":"additional","affiliation":[{"name":"Clinical Institute for Special Laboratory Diagnostics, University Children\u2019s Hospital, Ljubljana University Medical Center, Vrazov trg 1, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3080-4838","authenticated-orcid":false,"given":"Jernej","family":"Kovac","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia"},{"name":"Clinical Institute for Special Laboratory Diagnostics, University Children\u2019s Hospital, Ljubljana University Medical Center, Vrazov trg 1, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0273-4732","authenticated-orcid":false,"given":"Tadej","family":"Battelino","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Diabetes and Metabolic Diseases, University Children\u2019s Hospital, Ljubljana University Medical Center, Bohoriceva 20, 1000 Ljubljana, Slovenia"},{"name":"Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mojca","family":"Zerjav Tansek","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Diabetes and Metabolic Diseases, University Children\u2019s Hospital, Ljubljana University Medical Center, Bohoriceva 20, 1000 Ljubljana, Slovenia"},{"name":"Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5246-9869","authenticated-orcid":false,"given":"Urh","family":"Groselj","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Diabetes and Metabolic Diseases, University Children\u2019s Hospital, Ljubljana University Medical Center, Bohoriceva 20, 1000 Ljubljana, Slovenia"},{"name":"Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,1,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/0006-291X(92)90501-B","article-title":"Human liver long-chain 3-hydroxyacyl-coenzyme a dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of 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