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Fatal Infantile Hepatic Dysfunction Associated With TRMU Gene Mutation and Aggravated by Cytomegalovirus Infection: A

Saydé Khattar1, Pamela Rizk2, Faissal Tleiss3

  • 1Pediatrics, Faculty of Medical Sciences, Lebanese University, Beirut, LBN.

Cureus
|April 6, 2026
PubMed

Insights

A rare mitochondrial disease caused by TRMU gene mutations led to fatal infantile liver failure in a 50-day-old infant. Cytomegalovirus infection may have worsened the outcome.

Area of Science:

  • Genetics
  • Mitochondrial Diseases
  • Pediatric Hepatology

Background:

  • Transient infantile liver failure is a rare mitochondrial disease (MD) associated with tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) gene mutations.
  • The disease typically manifests in the first few months of life, presenting with jaundice, hepatomegaly, and lactic acidosis.
Keywords:
cytomegalovirus coinfectioninfantile hepatopathyliver failuremitochondrial diseasetrmu mutation

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