Clinical and diagnostic features of infantile liver failure caused by TRMU gene mutations

Abstract

Mutations in the TRMU gene encoding the mitochondrial tRNA-specific 2-thiouridylase were found in infantile hepatopathy related to mitochondrial translation defect (OMIM# 613070). This condition is rare mitochondrial disorder with a life-threatening onset and with spontaneous remission, therefore a prompt diagnosis and treatment of these patients has importance in clinical practice. Here we describe a patient, with liver failure due to mutations in TRMU gene and compare with patients from literature.