Enhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines [PDF]
Orphanet Journal of Rare DiseasesPurpose To enhance the detection rate of Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) through newborn screening (NBS), we analyzed the metabolic profiles of missed patients and proposed a more reliable method for early diagnosis.
Lingwei HU, Xinwen Huang, Cen Ziyan
exaly +6 more sources
Metabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids [PDF]
Clinical and Translational MedicinePurpose This study aimed to characterise urinary organic acid profiles in Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) and develop a diagnosis model to distinguish NICCD patients from those in the non‐specific metabolic ...
Peiyao Wang +7 more
doaj +3 more sources
Metabolic profiles and prediction of failure to thrive of citrin deficiency with normal liver function based on metabolomics and machine learning [PDF]
Nutrition & MetabolismPurpose This study aimed to explore metabolite pathways and identify residual metabolites during the post-neonatal intrahepatic cholestasis caused by citrin deficiency (post-NICCD) phase, while developing a predictive model for failure to thrive (FTT ...
Peiyao Wang +9 more
doaj +3 more sources
Newborn Screening for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency and Analysis of SLC25A13 Gene Mutations in Hefei, China [PDF]
International Journal of Neonatal ScreeningCitrin deficiency (CD) is an autosomal recessive disorder and represents one of the urea cycle disorders. This study aims to analyze the detection rate, clinical features, and genetic mutation characteristics of neonatal intrahepatic cholestasis caused ...
Qingqing Ma +7 more
doaj +3 more sources
Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency [PDF]
Frontiers in Pediatrics, 2023 BackgroundNeonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a common clinical phenotype of citrin deficiency in infants. Its phenotype is atypical, so genetic testing is quite necessary for the diagnosis.Case presentationWe report ...
Kena Wang +5 more
doaj +4 more sources
Dynamic changes of metabolic characteristics in neonatal intrahepatic cholestasis caused by citrin deficiency [PDF]
Frontiers in Molecular Biosciences, 2022 Introduction: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a pan-ethnic complicated inborn error of metabolism but the specific mechanism is not fully understood.Methods: A total of 169 patients with NICCD who have biallelic ...
Ting Zhang +9 more
doaj +2 more sources
Biochemical characteristics, genetic variants and treatment outcomes of 55 Chinese cases with neonatal intrahepatic cholestasis caused by citrin deficiency [PDF]
Frontiers in PediatricsBackgroundThe 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.
Juan Li +5 more
doaj +2 more sources
Developing an explainable machine learning model to predict false-negative citrin deficiency cases in newborn screening [PDF]
Orphanet Journal of Rare DiseasesBackground Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) is an autosomal recessive disorder affecting the urea cycle and energy metabolism.
Peiyao Wang +9 more
doaj +2 more sources
Characteristics of patients with neonatal intrahepatic cholestasis caused by citrin deficiency in China: long-term follow-up outcomes [PDF]
Jornal de PediatriaObjective: Citrin deficiency (CD) is an autosomal recessive disease caused by mutations in the SLC25A13 gene. This study aimed to expand the current body of data on Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency ...
Lingli Chen +5 more
doaj +2 more sources
A pediatric case of citrin deficiency presenting with recurrent hypertriglyceridemic pancreatitis-a case report [PDF]
Frontiers in PediatricsCitrin deficiency (CD) is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the SLC25A13 gene, which encodes the mitochondrial aspartate-glutamate carrier 2, also known as citrin.
Ruyi Ye +7 more
doaj +2 more sources