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.
Keywords: AARS1; AARS1, alanyl-(aminoacyl)-tRNA synthetase-1; Aminoacylation; Metabolic disease; PICU, pediatric intensive care unit; Protein biosynthesis; Recurrent acute liver failure; aaRS, aminoacyl-tRNA synthetase; mtDNA, mitochondrial DNA; nDNA, nuclear DNA.
© 2020 The Authors.