During the study period, a total of 270 newborns diagnosed with leukomalacia were enrolled, and 6 infants were excluded, including 3 with inherited metabolic disorders (1 with methylmalonic acidemia, 1 with ACTA2 mutation, and 1 with SCN1A mutation found during follow-up) and 3 with congenital brain malformations (1 with cortical dysplasia, 1 with brain gray matter heterotopia, and 1 with cerebral hemangioma). The gene discussed is ACTA2; the disease is methylmalonic acidemia.