Aspartate (Asp)-glutamate (Glu) carrier 2 (AGC2) (a.k.a., Citrin) deficiency (CD)1, caused by mutations in SLC25A132 encoding citrin, the liver-type AGC23, has been established as the cause of adult-onset type II citrullinemia (CTLN2), neonatal intrahepatic cholestasis (NICCD) in patients during their first year of life, and of other presentations including failure to thrive and dyslipidemia (FTTDCD), pancreatitis, hepatoma and non-alcoholic steatohepatitis. Here, SLC25A13 is linked to neonatal intrahepatic cholestasis due to citrin deficiency.