Objective To analyze the clinical characteristics and prognosis of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in infants. Methods The clinical data of43 infants with NICCD in our hospital from July2011 to April2014 were collected. The diagnosis was confirmed by tandem mass spectrometry (MS- MS) analysis of blood, gas chromatography- mass spectrometry (GC- MS) analysis of urine, and genetic testing, and an analysis was performed with reference to clinical manifestations and laboratory results. Results Most patients with NICCD developed jaundice early, with a round, fat face, hepatomegaly, and growth retardation. Laboratory examinations showed increased bilirubin, total bile acids, blood lactic acid, alpha- fetoprotein, and procalcitonin in all patients, increased alanine aminotransferase, gamma- glutamyl transpeptidase, and blood ammonia, decreased albumin and blood glucose, and dyslipidemia and coagulation disorders in most patients, and abnormal liver fibrosis markers (20 /24) and low ceruloplasmin (17 /20) in some patients. Abdominal ultrasound showed hepatomegaly in 32 patients. MS- MS analysis of blood samples revealed distinctive elevation of methionine, citrulline, tyrosine, threonine, and a variety of acyl carnitine in most patients. GC- MS analysis of urine samples revealed elevated galactose and galactitol in 20 patients, elevated 4- hydroxyphenyllactic acid and 4- hydroxyphenylpyruvic acid in 10 patients, and no abnormalities in 6patients. Genetic testing revealed 851del4, 1638ins23, and IVS6 + 5G > A mutations, especially 851del4 mutation. After being treated by giving lactose- free diet, strengthening medium- chain fatty acid diet, protecting the liver, and relieving cholestasis, most patients had normalized indices 2 months later, 2 cases had liver cirrhosis, and 7 cases died. Conclusion The clinical manifestations of NICCD vary in children. MS- MS analysis of blood, GC- MS analysis of urine, and genetic testing should be performed early in children with clinically suspected NICCD to provide intervention in time.
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