|
KMID : 0918520140140020186
|
|
Journal of the Korean Society of Inherited Metabolic Disease
2014 Volume.14 No. 2 p.186 ~ p.190
|
|
|
A Case of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) Confirmed by SLC25A13 Mutation
|
|
Sohn Young-Bae
Jang Joo-Young
Park Hyung-Doo
Lee Soo-Youn
|
|
|
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; neonatalonset 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.Met 285Profs*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.
|
|
|
KEYWORD
|
|
|
Citrullinemia type I, Citrin, Neonatal intrahepatic cholestasis caused by citrin deficiency
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|