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A Case of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) Confirmed by SLC25A13 Mutation  

Son, Yeong-Bae (아주대학교 의과대학 의학유전학과)
Jang, Ju-Yeong (아주대학교 의과대학 소아청소년과)
Park, Hyeong-Du (성균관대학교 의과대학 삼성서울병원 진단검사 의학과)
Lee, Su-Yeon (성균관대학교 의과대학 삼성서울병원 진단검사 의학과)
Publication Information
Journal of The Korean Society of Inherited Metabolic disease / v.14, no.2, 2014 , pp. 186-190 More about this Journal
Abstract
Citrullinemia type 2 (citrin deficiency) is an autosomal recessive inborn error metabolism, caused by the SLC25A13 gene mutation. Citrin deficiency is associated with two clinical phenotype; neonatal-onset type II citrullinemia (CTLN2), also known as neonatal intraphepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset CTLN2. Clinical manifestations of NICCD include poor growth, intrahepatic cholestasis, liver dysfunction and increased plasma citrulline, methionine, threonine, arginine. The molecular diagnosis could be confirmed by SLC25A13 gene mutation analysis. A 3-month-old male infant with persistent jaundice was referred for evaluation. Newborn screening was normal at birth. Mild elevation of serum ammonia and AST/ALT were observed. Plasma amino acid analysis showed significantly elevated citrulline, methionine, threonine. DNA sequence analysis of the SLC25A13 gene revealed two compound heterozygous mutations, c.[852_855del]($p.Met285Profs^*2$) and [1180+1G>A]. We suggest that NICCD should be considered as one of the cause of in infants with cholestatic jaundice, although the newborn screening was normal.
Keywords
Citrullinemia type II; Citrin; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD; SLC25A13;
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