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. This evidence concerns the gene SLC25A13 and citrullinemia type II.