J Korean Soc Neonatol.  2011 Nov;18(2):370-373. 10.5385/jksn.2011.18.2.370.

Novel Compound Heterozygote Mutations of the SLC25A13 Gene in an Infant with Neonatal-onset Type II Citrullinemia Detected by Newborn Mass Screening

• Lim HS
• Kim H
• Kim SS
• Kim GH
• Yoo HW
• Shin YL

• KMID: 2099215
• DOI: http://doi.org/10.5385/jksn.2011.18.2.370

Abstract

Citrin deficiency caused by the SLC25A13 gene mutations is associated with both neonatal-onset type II citrullinemia (CTLN2), also known as neonatal intrahepatic cholestasis caused by citrin deficiency and adult-onset CTLN2. Neonatal-onset CTLN2 is an autosomal recessive disorder characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline. A 16-days old infant with hyperammonemia was referred for evaluation of increased plasma citrulline diagnosed using tandem mass spectrometry. Blood amino acid analysis showed significant elevation of citrulline. Mild elevation in serum galactose levels had been found. DNA analysis of the SLC25A13 gene in this patient showed two novel compound heterozygous mutations, c.221C>T in exon4 and c.1645C in exon16 (p.[Ser74Phe]+[Gln549X]). We suggest that infants with a high serum citrulline level on a tandem mass screening test are candidates for gene analysis and blood amino acid analysis for neonatal-onset CTLN2.

Keyword

Citrullinemia; Citrin; Mutation

MeSH Terms

Calcium-Binding Proteins
Cholestasis, Intrahepatic
Citrulline
Citrullinemia
DNA
Galactose
Heterozygote
Humans
Hyperammonemia
Infant
Infant, Newborn
Mass Screening
Organic Anion Transporters
Plasma
Tandem Mass Spectrometry
Calcium-Binding Proteins
Citrulline
Citrullinemia
DNA
Galactose
Organic Anion Transporters