20.500.12556/DiRROS-24664 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 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. FAOD LCHAD deficiency LCHADD MTP deficiency MTPD NBS fatty acid oxidation disorder newborn newborn screening sudden infant death pomanjkanje LCHAD pomanjkanje MTP motnja oksidacije maščobnih kislin novorojenček presejalni pregled novorojenčkov nenadna smrt dojenčka true false true Angleški jezik Slovenski jezik Neznano 2025-12-11 08:46:01 2025-12-11 08:46:02 2025-12-12 03:44:08 0000-00-00 00:00:00 2025 0 0 Nasl. z nasl. zaslona; Opis vira z dne 18. 4. 2025; str. 1-15 iss. 1, [article no.] 9 Vol. 11 2025 0000-00-00 Zaloznikova Objavljeno apc 0000-00-00 0000-00-00 0000-00-00 616-053.2 2409-515X 10.3390/ijns11010009 233271043 RAZ_Drole_Torkar_Ana_2025.pdf RAZ_Drole_Torkar_Ana_2025.pdf 1 FD8924C5C5D7C0E5B28961162A61F221 cf245e004f1169a580f9c109b778a7461c024bd7097f5ea7d4f9fe28fe31a007 b33a3ecd-d665-11f0-94a7-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=36818 https://www.mdpi.com/2409-515X/11/1/9 1 796b1e1a-d665-11f0-94a7-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=36817 Univerzitetni klinični center Ljubljana 0 0 0