Aims: To find relation between the phenotype and genotype; To follow up NICCD patients. Method: Prospective description study Results: Diagnosis 38 case neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in studying on 88 cholestasis patients. Some clinical manifestation of NICCD: Jaundice (89,5 percent), hepatomegaly (86,8 percent), steatorrhea (78,9 percent), chubby face (81,6 percent), splenomegaly (36,8 percent) and faint (23,7 percent). Some laboratory feature: hyper bilirubinemia (100 percent), increase AST (100 percent), ALl (84,2 percent) and AST/ALT ratio 2,5 (84,2 percent). Most of NICCD patients has hepatic failure: Decrease prothrombin rate (89,5 percent), hypoproteinemia (92,1 percent), hypoalbuminemia (86,8 percent), hyperamonemia (89,4 percent). 100 percent patients has elevation of AFP and 57,9 percent has increase of citrullin. Use PCR/RFLP method to detect mutations oj SLC25A13 gen defined 38 NICCD cases (include 35 homozygous, 3 compound heterozygous) and 5 cases heterozygous. 4 mutations of SLC25A13 gene were found: 851 del4 , 1638ins23, IVS6+ 5G A and IVS16ins3kh. The most common is mutation [I] (851de14): 42,6 total alen and 92,6 percentmutantalens. Mutation [III] (1638ins23) was defined in 2,2 percent total alens and 5 percent mutant alens. Mutation [I] and [III] were found in 2 type homozygous and compound heterozygous. Mutation [XIX] (IVS16in. 3kh) and [X] (IVS6+ 5GA) only were found 1 case each type in compound heterozygous (0,6 percent total alens and 1,2 percent mutant alens). No relation between phenotype and genotype has been found. Most of NICCD has good prognosis (84,2 percent). There were 4 fatal cases (10,5 percent) and 2 patients have bad prognosis by hepatic failure, failure and portal hepatic failure.
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