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

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 une...

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Main Authors: Ana Drole Torkar, Ana Klinc, Ziga Iztok Remec, Branislava Rankovic, Klara Bartolj, Sara Bertok, Sara Colja, Vanja Cuk, Marusa Debeljak, Eva Kozjek, Barbka Repic Lampret, Matej Mlinaric, Tinka Mohar Hajnsek, Daša Perko, Katarina Stajer, Tine Tesovnik, Domen Trampuz, Blanka Ulaga, Jernej Kovac, Tadej Battelino, Mojca Zerjav Tansek, Urh Groselj
Format: Article
Language:English
Published: MDPI AG 2025-01-01
Series:International Journal of Neonatal Screening
Subjects:
MTP deficiency
MTPD
LCHAD deficiency
LCHADD
fatty acid oxidation disorder
FAOD
Online Access:https://www.mdpi.com/2409-515X/11/1/9
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