Purpose This study aimed to define the genotypic and phenotypic spectrum of reversible
acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU variants and …

MTU1 controls intramitochondrial protein synthesis by catalyzing the 2-thiouridine
modification of mitochondrial transfer RNAs (mt-tRNAs). Missense mutations in the MTU1 …

Aminoglycosides are ototoxic to the cochlear hair cells and mitochondrial dysfunction is one
of the major mechanisms behind ototoxic drug-induced hair cell death. TRMU (tRNA 5 …

Accumulating evidence supports the important role of RNA modifications in liver disease
pathogenesis. However, RNA modifications in alcohol-associated liver disease (ALD) have …

TRMU is a nuclear gene crucial for mitochondrial DNA translation by encoding tRNA 5-
methylaminomethyl-2-thiouridylate methyltransferase, which thiolates mitochondrial tRNA …

Early recognition of rare mitochondrial respiratory chain defects has become readily
available with the routine use of whole exome sequencing. Patients with oxidative …

Abstract tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency
causes an early onset potentially reversible acute liver failure, so far reported in less than 30 …

RESULTS Genomic DNA of the proband and his parents was analyzed in a single MiSeq
run and a mean of 55,850,378, 67 (range 51,267,616–60,251,112) reads were generated …

Background Liver failure caused by TRMU is a rare hereditary disorder and clinically
manifests into metabolic acidosis, hyperlactatemia, and hypoglycemia. Limited spectrum of …

The authors present an atypical case of an infant with unremarkable familiar, birth, and
neonatal history who developed a mild/benign form of transient cholestasis. At admission …