Currently, CD has developed into a worldwide panethnic disease entity encompassing at least three age-dependent clinical phenotypes, i.e. neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in neonates or infants, adult-onset type 2 citrullinemia (CTLN2) in adolescents and adults, as well as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), which was recently suggested to be a novel CD phenotype between NICCD and CTLN2 (7,11,12,19,50,51). The gene discussed is SLC25A13; the disease is citrullinemia type II.