摘要：AARS1 deficiency belongs to the group of disorders affecting aminoacyl-tRNA synthetases. To date, AARS1 deficiency has only been linked to neurologic disorders. We report a 6-year-old girl with microcephaly and developmental delay who presented with repeated episodes of acute liver failure. Whole-exome sequencing revealed compound heterozygosity for two missense variants within the AARS1 gene, p.[Leu298Gln];[Arg751Gly]), whose functional relevance was demonstrated by decreased enzymatic activity in fibroblasts. This is the first report that shows that AARS1 variants may be associated with recurrent acute liver failure.
关键词：Recurrent acute liver failure ; Protein biosynthesis ; Aminoacylation ; AARS1 ; Metabolic disease ; aaRS aminoacyl-tRNA synthetase ; AARS1 alanyl-(aminoacyl)-tRNA synthetase-1 ; mtDNA mitochondrial DNA ; nDNA nuclear DNA ; PICU pediatric intensive care unit
