The estimated frequency of patients with citrin deficiency is 1/38000-7100 in Asia depending on the carrier frequency of pathogenic SLC25A13 variants (Kobayashi et al., 2003; Tabata et al., 2008; Treepongkaruna et al., 2012; Lin et al., 2020). This evidence concerns the gene SLC25A13 and hyperinsulinemic hypoglycemia, familial, 4.