Mutations in both isoforms have been associated with human pathologies, those of AGC1 to the early infantile epileptic encephalopathy 39 (EIEE39) with the first clinical case reported by Wibom et al. (2009) [10]; and those of citrin to idiopathic neonatal hepatitis (NICCD), failure to thrive and dyslipidemia caused by Citrin deficiency (FTTDCD) and adult-onset type II citrullinaemia (CTLN2) [8,43,44,45]. This evidence concerns the gene SLC25A13 and neonatal intrahepatic cholestasis due to citrin deficiency.