20.500.12556/RUL-176896 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. MTP deficiency MTPD LCHAD deficiency LCHADD fatty acid oxidation disorder FAOD sudden infant death newborn newborn screening NBS pomanjkanje MTP MTPD pomanjkanje LCHAD LCHADD motnja oksidacije maščobnih kislin FAOD nenadna smrt dojenčka novorojenček presejalni pregled novorojenčkov NBS true false true Angleški jezik Slovenski jezik Članek v reviji 2025-12-13 04:34:27 2025-12-15 07:08:29 2026-01-30 08:39:37 0000-00-00 00:00:00 2025 0 0 15 str. iss. 1, art. 9 Vol. 11 2025 0000-00-00 Zaloznikova Objavljeno NiDoloceno 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 1AE01C8A5299B9C70F02149EE44D1E39 fe69682528aaf335a2348ee2ee41195076a3f2d3abb1a81abbd02f18721df0d4 e5d2c8c6-d97b-11f0-9328-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=223679 https://www.mdpi.com/2409-515X/11/1/9 1 38cc7fe5-d7d4-11f0-9328-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=223549 Medicinska fakulteta 0 0 0