Why Infants with Some Inherited Metabolic Diseases do not Develop Neonatal Indirect Hyperbilirubinemia ? An Overlooked Detail

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dc.authoridKartal Öztürk, Gökçen/0000-0002-0793-9710
dc.authoridCELIK, HASAN TOLGA/0000-0002-1725-0722
dc.contributor.authorOzturk, Gokcen Kartal
dc.contributor.authorKorkmaz, Ayse
dc.contributor.authorCelik, Hasan Tolga
dc.contributor.authorYigit, Sule
dc.contributor.authorYurdakok, Murat
dc.contributor.authorCoskun, Turgay
dc.date.accessioned2024-08-31T07:49:24Z
dc.date.available2024-08-31T07:49:24Z
dc.date.issued2024
dc.departmentEge Üniversitesien_US
dc.description.abstractAim: Although indirect hyperbilirubinemia is the most common neonatal problem in term newborns, it is rarely observed in newborns with some inherited metabolic diseases. Therefore, we aimed to compare the frequency of indirect hyperbilirubinemia in newborns with these diagnoses and compare them with healthy newborns. Materials and Methods: In the study group, term newborns with inherited metabolic diseases characterized by metabolic acidosis and/or hyperammonemia were included retrospectively and prospectively between January 1st, 2001, and December 31st, 2014. Healthy-term newborn infants were prospectively included in the control group. Results: In the study group (n=106), 63.2% of the patients had organic acidemia, 20.8% urea cycle disorders, 4.7% mitochondrial diseases, 5.7% fatty acid oxidation disorders, and 5.7% other diseases, while the control group included 126 healthy term newborns. Mean serum indirect bilirubin levels were significantly lower in the study group compared to the control group (5.8 +/- 5.4 mg/dL vs 13.9 +/- 4.1 mg/dL, p<0.00, respectively). The frequency of phototherapy was 11.3% in the study group and 23.8% in the control group (p<0.05). While the incidence of jaundice was significantly lower in organic acidemia, urea cycle disorder, and fatty acid oxidation disorders (p<0.05), there was no difference in mitochondrial disease compared to the control group (p>0.05). Conclusion: This was the first epidemiological study aiming to determine a very low incidence of neonatal jaundice in newborns with inherited metabolic diseases characterized by metabolic acidosis and/or hyperammonemia. The exact pathophysiological mechanism of this strikingly low incidence of indirect hyperbilirubinaemia in these newborns should be investigated with prospective biochemical, enzymatic, molecular, and genetic studies.en_US
dc.identifier.doi10.4274/jpr.galenos.2024.80090
dc.identifier.endpage24en_US
dc.identifier.issn2147-9445
dc.identifier.issue1en_US
dc.identifier.startpage17en_US
dc.identifier.urihttps://doi.org/10.4274/jpr.galenos.2024.80090
dc.identifier.urihttps://hdl.handle.net/11454/104852
dc.identifier.volume11en_US
dc.identifier.wosWOS:001193683900010en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isoenen_US
dc.publisherGalenos Publ Houseen_US
dc.relation.ispartofJournal of Pediatric Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmz20240831_Uen_US
dc.subjectIndirect Hyperbilirubinemiaen_US
dc.subjectInherited Metabolic Diseasesen_US
dc.subjectMetabolic Acidosisen_US
dc.subjectHyperammonemiaen_US
dc.subjectOrganic Acidemiaen_US
dc.titleWhy Infants with Some Inherited Metabolic Diseases do not Develop Neonatal Indirect Hyperbilirubinemia ? An Overlooked Detailen_US
dc.typeArticleen_US

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