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Updated: Aug 1, 2025

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats
Published on: November 20, 2015
Carnitine-Acylcarnitine Translocase Deficiency Masked by Extreme Prematurity
Kelli C Lund1, Brian Scottoline2, Brian K Jordan2
1Department of Pediatrics, Division of Neonatology, University of Utah, Salt Lake City, Utah, United States.
Abstract:
Carnitine-acylcarnitine translocase (CACT) deficiency is a rare disorder of long chain fatty acid oxidation with a very high mortality rate due to cardiomyopathy or multiorgan failure. We present the course of a very premature infant with early onset CACT deficiency complicated by multiple episodes of necrotizing enterocolitis, sepsis, and liver insufficiency, followed by eventual demise. The complications of prematurity, potentiated by the overlay of CACT deficiency, contributed to the difficulty of reaching the ultimate diagnosis of CACT deficiency.
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