Identification of the plasma metabolomics as early diagnostic markers between biliary atresia and neonatal hepatitis syndrome

PLoS One. 2014 Jan 8;9(1):e85694. doi: 10.1371/journal.pone.0085694. eCollection 2014.


Early detection is the most effective way to improve the clinical outcome of biliary atresia (BA). Emerging metabolomics provides a powerful platform for discovering novel biomarkers and biochemical pathways to improve early diagnosis. The aim of this study is to find the potential biomarkers to distinguish BA from neonatal hepatitis syndrome (NHS) by using a metabolomics method. We comprehensively analyzed the serum metabolites in a total of 124 blood samples from patients with BA or neonatal hepatitis syndrome (NHS) and from normal individuals using advanced metabolomic approaches, and found that the levels of glutarylcarnitine (C5DC) significantly increased in the BA group while the levels of threonine (Thr) significantly rose in the NHS group comparing with the other groups. The levels of glutamic acid (Glu) in the BA group were significantly elevated compared to those in the NHS group, but still lower than the hyperbilirubinemia and normal controls. The levels of propionyl carnitine (C3), isovaleryl carnitine (C5) and glutamine (Gln) were reduced in the BA group compared to those in the NHS group, but still higher than the hyperbilirubinemia and normal controls. This study demonstrates the possibility of metabolomics as non-invasive biomarkers for the early detection of BA and also provides new insight into pathophysiologic mechanisms for BA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acids / metabolism
  • Biliary Atresia / blood*
  • Biliary Atresia / diagnosis*
  • Biomarkers / blood*
  • Carnitine / analogs & derivatives
  • Carnitine / metabolism
  • Chromatography, Liquid
  • Demography
  • Discriminant Analysis
  • Dried Blood Spot Testing
  • Early Diagnosis*
  • Female
  • Hepatitis / blood*
  • Hepatitis / diagnosis*
  • Humans
  • Infant, Newborn
  • Infant, Newborn, Diseases
  • Least-Squares Analysis
  • Male
  • Mass Spectrometry
  • Metabolomics*
  • Syndrome


  • Amino Acids
  • Biomarkers
  • acylcarnitine
  • Carnitine

Grants and funding

This work was supported by the Shanghai Natural Science Foundation (No. 11ZR1423800), the Program of “New One Hundred Talented People” of the Shanghai Jiaotong University School of Medicine, Science Foundation for The Excellent Youth Scholars of Xinhua Hospital (to Y. Zhang). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.