title: Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Differentiated from Biliary Atresia.
abstract: Purpose The aim of this article is to differentiate neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) from biliary atresia (BA) by total hexose. Methods A total of 11 patients with NICCD, 29 patients with BA, and 4,898 children as controls were involved in this study. The blood concentration of amino acids, carnitine, acylcarnitines, and total hexose were measured in dry blood spots (DBS) using tandem mass spectrometry (MS/MS). Results In the patients with NICCD, the blood concentration of the total hexose (15.3 ± 9.0 mmol/L vs. 7.3 ± 2.7 mmol/L; p < 0.001), citrulline (Cit) (197.9 ± 93.7 µmol/L vs. 17.5 ± 7.4 µmol/L; p < 0.001) were higher than those of patients with BA. Using total hexose (> 10 mmol/L), Cit (> 55 µmol/L) to diagnose NICCD, the sensitivity and specificity were 66.7 and 97.8% and 90.0 and 99.1%, respectively, and all of the areas under the receiver-operating characteristic curves were greater than 0.85. Conclusion Elevated total hexose in DBS measured by MS/MS associated with elevated amino acids, especially Cit can be used to diagnose NICCD and differentiate it from BA.
authors.affiliation: Department of Pediatric Surgery, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.
authors.forename: Zhenhua
authors.initials: Z
authors.lastname: Gong
authors.affiliation: Department of Pediatric Surgery, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.
authors.forename: Wei-Jue
authors.initials: WJ
authors.lastname: Xu
authors.affiliation: Neonatal Screening Center, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.
authors.forename: Guo-Li
authors.initials: GL
authors.lastname: Tian
authors.affiliation: Department of Gastroenterology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.
authors.forename: Ting
authors.initials: T
authors.lastname: Zhang
authors.affiliation: Department of Pediatric Surgery, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.
authors.forename: Zhibao
authors.initials: Z
authors.lastname: Lv
mesh_terms: D000596:Amino Acids / Q000097:blood; D000704:Analysis of Variance; D001656:Biliary Atresia / Q000097:blood / Q000175:diagnosis*; D001663:Bilirubin / Q000097:blood; D002135:Calcium-Binding Proteins / Q000172:deficiency*; D002331:Carnitine / Q000031:analogs & derivatives / Q000097:blood; D016022:Case-Control Studies; D002780:Cholestasis, Intrahepatic / Q000097:blood / Q000175:diagnosis* / Q000209:etiology*; D006601:Hexoses / Q000097:blood; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D027361:Organic Anion Transporters / Q000172:deficiency*; D012189:Retrospective Studies; D012680:Sensitivity and Specificity; D053719:Tandem Mass Spectrometry
chemical_list: D000596:Amino Acids; D002135:Calcium-Binding Proteins; D006601:Hexoses; D027361:Organic Anion Transporters; C116917:acylcarnitine; C008822:citrin; D001663:Bilirubin; D002331:Carnitine