ArticleFrontiers in pediatrics2024
Biochemical characteristics, genetic variants and treatment outcomes of 55 Chinese cases with neonatal intrahepatic cholestasis caused by citrin deficiency.
Article in Frontiers in pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Cholestatic Liver Failure and Hypoglycemia in a Newborn: A Mitochondrial Pathology due to Citrin Deficiency.Clinical case reports · 2026Article
- Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD).JIMD reports · 2026Article
- Application of tandem mass spectrometry for blood acylcarnitine and amino acid profiling in differentiating etiologies of neonatal cholestasis.Frontiers in pediatrics · 2026Article
- Developing an explainable machine learning model to predict false-negative citrin deficiency cases in newborn screening.Orphanet journal of rare diseases · 2025Article
- Metabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids.Clinical and translational medicine · 2025Article
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Authors and funding
6 authors.
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Abstract
Background: The diagnostic criteria of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) have not been established due to non-specific clinical manifestations, and our understanding on the treatment outcome is still limited. We aim to investigate the biochemical characteristics, genetic variants, and treatment outcome of NICCD patients. Methods: We compared the nutritional status and biochemical characteristics of 55 NICCD infants and 27 idiopathic neonatal cholestasis (INC) infants. Results: Compared to INC group, significant increase was found in levels of total bilirubin, indirect bilirubin, total bile acid, gamma-glutamyl transpeptidase, alkaline phosphatase, prothrombin time, thrombin time, international normalized ratio, alpha-fetoprotein (AFP), Vitamin D, and Vitamin E of NICCD group, while alanine aminotransferase, albumin, fibrinogen, glucose, and Vitamin A levels showed significant decrease in the NICCD group ( Conclusions: NICCD showed more severe impairments in liver, coagulation, and metabolic function than INC. Significantly increased AFP levels could provide reference for the differential diagnosis of NICCD. The newly discovered variants may be meaningful for the individualized treatment of NICCD patients. LF/MCT formula was recommended for NICCD patients.
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