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.

• Tác giả: Klara Bartolj, Tadej Battelino, Sara Bertok, Sara Colja, Vanja Cuk, Marusa Debeljak, Ana Drole Torkar, Urh Groselj, Ana Klinc, Jernej Kovac, Eva Kozjek, Matej Mlinaric, Tinka Mohar Hajnsek, Daša Perko, Branislava Rankovic, Ziga Iztok Remec, Barbka Repic Lampret, Katarina Stajer, Tine Tesovnik, Domen Trampuz, Blanka Ulaga, Mojca Zerjav Tansek
• Ngôn ngữ: eng
• Ký hiệu phân loại: 371.926 *Students with moderate mental disabilities
• Thông tin xuất bản: Switzerland : International journal of neonatal screening , 2025
• Bộ sưu tập: NCBI
• ID: 252077

Tóm tắt

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