ArticleCureus2026
Fatal Infantile Hepatic Dysfunction Associated With TRMU Gene Mutation and Aggravated by Cytomegalovirus Infection: A Unique Case.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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3 authors.
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Abstract
Transient infantile liver failure due to tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) gene mutation is a rare mitochondrial disease (MD) that typically presents within the first few months of life. We present the case of a 50-day-old female infant who was admitted with jaundice, hepatomegaly, lactic acidosis, and signs of liver dysfunction. Extensive metabolic and infectious investigations revealed a homozygous TRMU gene mutation and a high cytomegalovirus (CMV) viral load. The patient was treated with intravenous ganciclovir, supportive liver management, and metabolic correction; however, her clinical course was complicated by hepatic failure, coagulopathy, anemia, and ultimately cardiac arrest. This case represents the first reported instance of fatal infantile liver failure associated with a TRMU mutation, with CMV infection as a possible aggravating factor, from Lebanon.
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