2022
DOI: 10.3389/fmolb.2022.939837
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Dynamic changes of metabolic characteristics in neonatal intrahepatic cholestasis caused by citrin deficiency

Abstract: 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 pathogenic SLC25A13 variants detected by targeted next-generation sequencing were collected. They were divided into the “Newborn-screen Group” and “Clinical diagnosed Group” depending on the newborn screening results. Amino acid and acylcarnitine profiles were m… Show more

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Cited by 3 publications
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“…The citrulline levels of these cases ranged from 17 to 34 μmol/L with a median of 26 μmol/L (cutoff: 35 μmol/L). This is because of the fact that DBS samples are typically collected between 24 to 72 h of life in our NBS program, while the citrulline levels of a large proportion of genuine CD patients would not be quite elevated until day 3 to 7 of life and onwards [ 18 ]. With second-tier genetic screening in place, we are now able to pick up the two cases of citrin deficiency, Cit-1 (27 μmol/L) and Cit-2 (26 μmol/L), which would have gone undetected with a first-tier test alone.…”
Section: Discussionmentioning
confidence: 99%
“…The citrulline levels of these cases ranged from 17 to 34 μmol/L with a median of 26 μmol/L (cutoff: 35 μmol/L). This is because of the fact that DBS samples are typically collected between 24 to 72 h of life in our NBS program, while the citrulline levels of a large proportion of genuine CD patients would not be quite elevated until day 3 to 7 of life and onwards [ 18 ]. With second-tier genetic screening in place, we are now able to pick up the two cases of citrin deficiency, Cit-1 (27 μmol/L) and Cit-2 (26 μmol/L), which would have gone undetected with a first-tier test alone.…”
Section: Discussionmentioning
confidence: 99%