2018
DOI: 10.1111/cts.12590
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Newborn Metabolic Profile Associated with Hyperbilirubinemia With and Without Kernicterus

Abstract: Our objective was to assess the relationship between hyperbilirubinemia with and without kernicterus and metabolic profile at newborn screening. Included were 1,693,658 infants divided into a training or testing subset in a ratio of 3:1. Forty‐two metabolites were analyzed using logistic regression (odds ratios (ORs), area under the receiver operating characteristic curve (AUC), 95% confidence intervals (CIs)). Several metabolite patterns remained consistent across gestational age groups for hyperbilirubinemia… Show more

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Cited by 13 publications
(6 citation statements)
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“…Previous studies have shown that elevated valine, leucine, lysine, isoleucine and alanine levels reflected abnormal amino acid metabolism in patients with neonatal jaundice [10] , and revealed transient high serum methionine levels and hypermethioninemia helped distinguish the various causes of obstructive jaundice in these infants [20] . Additionally, altered serum phenylalanine, ornithine, isoleucine and leucine metabolism in neonates is closely associated with the presence of combined bilirubin encephalopathy in neonates with hyperbilirubinemia [21] , which is consistent with the results of our study. Whether the results of our gut metabolomic may help distinguish neonates with hyperbilirubinemia from HC and as metabolic markers for NJ requires further investigation.…”
Section: Discussionsupporting
confidence: 92%
“…Previous studies have shown that elevated valine, leucine, lysine, isoleucine and alanine levels reflected abnormal amino acid metabolism in patients with neonatal jaundice [10] , and revealed transient high serum methionine levels and hypermethioninemia helped distinguish the various causes of obstructive jaundice in these infants [20] . Additionally, altered serum phenylalanine, ornithine, isoleucine and leucine metabolism in neonates is closely associated with the presence of combined bilirubin encephalopathy in neonates with hyperbilirubinemia [21] , which is consistent with the results of our study. Whether the results of our gut metabolomic may help distinguish neonates with hyperbilirubinemia from HC and as metabolic markers for NJ requires further investigation.…”
Section: Discussionsupporting
confidence: 92%
“…The possible link between this disease and bilirubin concentrations is unknown. However, for the other gene, KANK1, there may be a stronger relationship, given that deletions in this gene have been associated with cerebral palsy and alterations in neurodevelopment [74] and it is known that, in the case of extreme hyperbilirubinemia in the newborn neurological sequelae can occur, including the Kernicterus Spectrum Disorders [30,75]. However, our data on this level of statistical significance only provide suggestive results for later replication.…”
Section: Discussionmentioning
confidence: 59%
“…Initially, the focus was between the association of high bilirubin concentrations and jaundice in children and other related syndromes (Gilbert, etc.) as well as liver damage in adults [28,29,30,75]. However, even in Gilbert’s syndrome [26], associated with SNPs in the UGT1A1 gene and a mild hyperbilirubinemia, a lower incidence of cardiovascular diseases has been reported [76].…”
Section: Discussionmentioning
confidence: 99%
“…27 Neonatal metabolism is associated with hypertrophy of blood bilirubin, thyroidstimulating hormone (TSH) and C-18:2 decreased jaundice associated with levels of TSH, T4, and G6PD. 28,29 Residential zones are associated with hypothyroidism. Home locations affect pregnant women using iodine salt and getting enough iodine from food.…”
Section: Discussionmentioning
confidence: 99%