Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency.

ABSTRACT: 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.

SUBMITTER: Marten LM 

PROVIDER: S-EPMC7691605 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature