Post-mortem diagnosis of CACT deficiency with a novel SLC25A20 variant

Abstract Carnitine-acylcarnitine translocase deficiency is a severe neonatal metabolic disorder caused by SLC25A20 variants. We report a case of sudden neonatal death in which post-mortem CT revealed diffuse fatty liver, and subsequent genetic analysis identified compound heterozygous variants in SLC25A20 , including a known variant, c.824G>A p.(Arg275Gln), and a novel nonsense variant, c.334C>T p.(Gln112Ter). These findings demonstrate the utility of post-mortem genetic analysis in determining the cause of sudden neonatal death.