Open AccessGilbert Syndrome and Genetic Findings in Children: A Tertiary-Center Experience from Turkey
Author(s) -
Yeliz Çağan Appak,
Burcu Aksoy,
Berk Özyılmaz,
Taha Reşi̇d Özdemir,
Maşallah Baran
Publication year - 2022
Publication title -
pubmed central
Language(s) - English
Resource type - Journals
pISSN - 2757-6256
DOI - 10.5152/turkarchpediatr.2022.21291
Subject(s) - gilbert's syndrome , medicine , bilirubin , sanger sequencing , gastroenterology , allele , glucuronosyltransferase , pediatrics , gene , endocrinology , mutation , genetics , enzyme , biology , biochemistry , microsome
Gilbert syndrome (GS) is a disease characterized by mildly elevated indirect serum bilirubin levels due to mutation in the promoter of the UGT1A1 gene, which causes a decrease in uridine diphosphate glucuronyltransferase enzyme activity. Gilbert syndrome should be considered based on clinical and laboratory findings in differential diagnosis, which can be supported by genetic analysis. This study aimed to evaluate the clinical findings and UGT1A1 mutations of children with Gilbert syndrome.