This number is lower than the frequency of SLC25A13 mutations carrier among Chinese (1/63), Japanese (1/65), and Korean (1/108) populations, respectively [15,20,25], plausibly due to underestimation of the prevalence in the present study because not all infants with SLC25A13 mutation(s) on both alleles manifest NICCD symptoms and that the carrier rates described in those East Asian populations were obtained through molecular genetic screening of control population which is more reliable method to provide epidemiologic data. Here, SLC25A13 is linked to neonatal intrahepatic cholestasis due to citrin deficiency.