In addition, a girl with the SLC25A13 genotype c.851_854del4/c.1799_1800insA displayed characteristics of NICCD, but her mother heterozygous for the mutations c.1799_1800insA and IVS16ins3kb did not display any symptoms of CTLN2, as it recently demonstrated by a Japanese group (68). Here, SLC25A13 is linked to neonatal intrahepatic cholestasis due to citrin deficiency.