Neonatal Medicine

The Korean Society of Neonatology (대한신생아학회)
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Novel Compound Heterozygote Mutations of the SLC25A13 Gene in an Infant with Neonatal-onset Type II Citrullinemia Detected by Newborn Mass Screening

  • Lim, Ho-Seop (Department of Pediatrics, College of Medicine, Soonchunhyang University) ;
  • Kim, Ho (Department of Pediatrics, College of Medicine, Soonchunhyang University) ;
  • Kim, Sung-Shin (Department of Pediatrics, College of Medicine, Soonchunhyang University) ;
  • Kim, Gu-Hwan (Department of Pediatrics, Medical Genetics Clinic and Laboratory) ;
  • Yoo, Han-Wook (Department of Pediatrics, Medical Genetics Clinic and Laboratory) ;
  • Shin, Young-Lim (Department of Pediatrics, College of Medicine, Soonchunhyang University)
  • Published : 2011.11.30
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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.

Citrin deficiency는 염색체 7q21.3의 SLC25A13 유전자 돌연변이에 의해 발생하는 상염색체 열성질환으로 neonatal-onset type II citrullinemia (CTLN2) 및 adult-onset CTLN2로 분류된다. 생후 16일된 여아가 신생아 대사 검사에서 citrullinemia (CTLN)가 의심되었고 혈중 아미노산 분석에서 CTLN 및 고암모니아혈증을 보였고, SLC25A13 유전자 분석 결과 c.221C>T in exon4 and c.1645C in exon16 (p.[Ser74Phe]+[Gln549X]) 의 새로운 돌연변이가 발견되어 neonatal-onset CTLN2로 진단되었다. 저자들은 신생아 대사 검사에서 citrullinemia를 보이는 영아들에서 확진을 위한 유전자 검사 및 혈중 아미노산 분석이 필요하다고 생각한다.

Keywords

References

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