Neonatal intrahepatic cholestas caused by citrin deficiency (NICCD) is a common inborn error of metabolism which caused by mutations in SLC25A13 gene.To date, over 50 different mutations have been identified and novel mutations are still being discovered.We report a 2-month-old Chinese infant with NICCD which diagnosis was made by tandem mass spectrometry (MS-MS) , gas chromatography mass spectrometry (GC-MS) analysis and gene analysis.