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Updated: Feb 21, 2026

Isolation of Neonatal Extrahepatic Cholangiocytes
Published on: June 5, 2014
Bile acid profiles in neonatal intrahepatic cholestasis caused by citrin deficiency
Ching-Hsuan Yang1, Chiung-Yu Chen2, Yen-Yin Chou3
1Department of Medical Laboratory Science and Biotechnology, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Background:
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is characterized by conjugated hyperbilirubinemia and increased plasma bile acid concentrations. However, the underlying mechanisms remain unclear. We established a liquid chromatography tandem mass spectrometry (LC-MS/MS) method for simultaneously quantifying plasma bile acids and examined bile acid profiles in NICCD infants.
Methods:
We measured 15 bile acids within 15min and found a wide linear range for individual bile acids.
Results:
The within-run and run-to-run CV of all bile acids was 1.2-10.9% and 3.1-10.8%, respectively, with a mean recovery of 90.5-112.6%. Compared to infants with citrullinemia without mutations in SLC25A13 (non-NICCD), NICCD infants showed increased plasma total bile acid concentrations (mean: 201 vs. 42μM, p<0.001), with a distinct bile acid profile characterized by increased conjugated primary bile acid concentrations. The calculated ratios, including primary/secondary bile acid (714 vs. 235, p<0.05) and conjugated/free bile acid (371 vs. 125, p<0.05) ratios, were higher in NICCD infants. The area under receiver operating characteristic curve for conjugated/free bile acid ratio to identify infants with NICCD was 0.871 (95% confidence interval, 0.713-1.0).
Conclusions:
Together, our findings indicated plasma bile acid profile as a potential noninvasive diagnostic biomarker for NICCD.
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