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Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants

Suporn Treepongkaruna1, Suttiruk Jitraruch, Porawee Kodcharin

  • 1Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.

BMC Gastroenterology
|October 17, 2012
PubMed

Insights

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is often misdiagnosed. This study found NICCD in 12.8% of Thai infants with idiopathic cholestatic jaundice, suggesting it should be considered in diagnosis.

Area of Science:

  • Genetics and Molecular Biology
  • Pediatric Gastroenterology
  • Metabolic Disorders

Background:

  • Idiopathic neonatal hepatitis (INH) and biliary atresia are common causes of infant cholestatic jaundice.
  • Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), linked to SLC25A13 gene mutations, is increasingly identified, particularly in East Asian populations.
  • NICCD is often misdiagnosed as INH due to spontaneous recovery, complicating prevalence assessment.

Purpose of the Study:

  • To determine the prevalence of NICCD and SLC25A13 mutations in Thai infants.
  • To compare clinical and biochemical characteristics of NICCD and non-NICCD infants.
  • To investigate the genetic basis of NICCD in a Thai cohort.

Main Methods:

  • Enrolled infants with idiopathic cholestatic jaundice or INH.
  • Reviewed clinical and biochemical data, including urine organic acid and plasma amino acid profiles.
  • Performed PCR-sequencing of all 18 exons of the SLC25A13 gene and gap PCR for specific mutations.

Main Results:

  • NICCD was identified in 5 out of 39 (12.8%) infants, with common mutations including 851del4.
  • NICCD patients presented with higher alkaline phosphatase (ALP), alpha-fetoprotein (AFP), and lower alanine aminotransferase (ALT) compared to non-NICCD infants.
  • NICCD infants showed elevated citrulline levels and threonine/serine ratios, with jaundice resolving in all NICCD cases.

Conclusions:

  • NICCD is a significant consideration for infants presenting with idiopathic cholestasis.
  • The estimated prevalence of NICCD in Thai infants is 1/48,228, with a carrier rate of 1/110.
  • Further research with larger populations is needed to confirm the true prevalence of NICCD and AGC2 deficiency.
Abstract

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