Article
Pediatrics
Zhe Yang, Fen Lin, Jia-Xin Xu, Hui Yang, Yong-Hao Wu, Zi-Kai Chen, He Xie, Bin Huang, Wei-Hao Lin, Jian-Peng Wu, Yu-Bin Ma, Jian-Dong Li, Li-Ye Yang
Summary: This study found that a variant of the UGT1A1 gene (UGT1A1*6) is associated with the occurrence and severity of prolonged jaundice in Chinese term infants. Exclusive breastfeeding, homozygous and heterozygous forms of UGT1A1*6 were significant risk indicators for prolonged jaundice.
FRONTIERS IN PEDIATRICS
(2022)
Article
Pediatrics
Arieh Riskin, Yulia Bravdo, Clair Habib, Irit Maor, Julnar Mousa, Sizett Shahbarat, Elena Shahak, Adel Shalata
Summary: Glucose-6-phosphate dehydrogenase (G6PD) deficiency and uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1) polymorphism are associated with neonatal hyperbilirubinemia (NHB) and increased risk for kernicterus. Genotype and phenotype association in newborns with decreased G6PD activity and its relation to NHB were examined. The study found that G6PD deficiency and UGT1A1 polymorphism were linked to higher bilirubin levels, especially in heterozygous females with G6PD deficiency. However, further studies are needed to fully understand the complex interaction between G6PD deficiency, UGT1A1 polymorphism, and NHB.
Article
Obstetrics & Gynecology
Adil Abozaid Eissa, Bijar Ali Haji, Adnan Anwar Al-Doski
Summary: The study revealed a significant association between G6PD deficiency and neonatal hyperbilirubinemia, with deficient neonates requiring longer phototherapy and hospitalization. However, no significant differences were found in symptom onset, reticulocyte counts, and neonatal age between G6PD-deficient and nondeficient neonates.
AMERICAN JOURNAL OF PERINATOLOGY
(2021)
Article
Multidisciplinary Sciences
Manit Nuinoon, Rungnapha Krithong, Suputcha Pramtong, Piyawit Sasuk, Chompunuch Ngeaiad, Sathanan Chaimusik, Jiraporn Kanboonma, Orawan Sarakul
Summary: This study investigated the prevalence and variants of G6PD deficiency in the southern Thai population, revealing a 6.1% prevalence in males and 9.6% prevalence in females. The most common mutations were G6PD Viangchan (871G>A) and G6PD Mahidol (487G>A). The findings highlight the importance of newborn screening to prevent acute hemolysis.
Article
Pediatrics
Chalirmporn Atasilp, Janjira Kanjanapipak, Jaratdao Vichayaprasertkul, Pimonpan Jinda, Rawiporn Tiyasirichokchai, Pornpen Srisawasdi, Chatchay Prempunpong, Monpat Chamnanphon, Apichaya Puangpetch, Natchaya Vanwong, Suwit Klongthalay, Thawinee Jantararoungtong, Chonlaphat Sukasem
Summary: This study explores the correlation between two genes, UGT1A1 and SLCO1B1, and hyperbilirubinemia in Thai neonates. The UGT1A1*6 variant is significantly related to the development of hyperbilirubinemia, while SLCO1B1 521 T > C variant provides protection against hyperbilirubinemia. There is no significant association between UGT1A1 *28 and SLCO1B1 388A > G and the severity of the disease.
Article
Pediatrics
Yi-Kang Yang, Chun-Fan Lin, Fen Lin, Zi-Kai Chen, Yu-Wei Liao, Yu-Chan Huang, Bei-Ru Xiao, Shan-Hua Huang, Yu-Mei Xu, Yue-E. Chen, Yan-Bin Cao, Li-Ye Yang
Summary: This study aimed to evaluate the risk factors associated with hyperbilirubinemia in infants from the western part of Guangdong Province and assess the contribution of G6PD deficiency to neonatal jaundice. The results showed that G6PD deficiency, infection, and neonatal hemolytic disease were the main causes of hyperbilirubinemia and acute bilirubin encephalopathy in newborns in Yangjiang.
FRONTIERS IN PEDIATRICS
(2023)
Article
Genetics & Heredity
Meng Zhang, Hongwu Wang, Yuancheng Huang, Xin Xu, Wei Liu, Qin Ning, Tao Chen, Junying Qi
Summary: Gilbert's syndrome (GS) is associated with different variants of the UGT1A1 gene, with the UGT1A1*28 and UGT1A1*6 genotypes being majorly linked to serum total bilirubin levels in the Chinese Han population.
Article
Medical Laboratory Technology
Weiqian Dai, Tingting Yang, Yu Wang, Qianfeng Zhao, Yongkun Zhan, Jun Ye, Lianshu Han, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Xuefan Gu, Yongguo Yu
Summary: Developed a reliable MALDI-TOF MS assay for G6PD deficiency screening in the Chinese population, maximizing the chance of detection of heterozygous G6PD deficient females and reducing the false negative and false positive rates associated with routinely used newborn screening procedures.
CLINICAL BIOCHEMISTRY
(2021)
Article
Pharmacology & Pharmacy
Zhikun Zhan, Fahong Dai, Tao Zhang, Yulian Chen, Jianglian She, Huanguo Jiang, Shuwen Liu, Tanwei Gu, Lan Tang
Summary: This study found that oridonin (Ori) extracted from Rabdosia rubescens can treat hyperbilirubinemia-related diseases by modulating the LXR alpha-UGT1A1 signaling pathway.
PHARMACOLOGICAL RESEARCH
(2022)
Review
Microbiology
Daniel A. Pfeffer, Ari Winasti Satyagraha, Arkasha Sadhewa, Mohammad Shafiul Alam, Germana Bancone, Yap Boum, Marcelo Brito, Liwang Cui, Zeshuai Deng, Gonzalo J. Domingo, Yongshu He, Wasif A. Khan, Mohammad Golam Kibria, Marcus Lacerda, Didier Menard, Wuelton Monteiro, Sampa Pal, Sunil Parikh, Arantxa Roca-Feltrer, Michelle Roh, Mahmoud M. Sirdah, Duoquan Wang, Qiuying Huang, Rosalind E. Howes, Ric N. Price, Benedikt Ley
Summary: This study investigates the variation in G6PD activity caused by different genetic variants and finds that different mutations can lead to varying degrees of enzyme deficiency. Some of these mutations are associated with clinically relevant enzymatic deficiencies.
Article
Pediatrics
Haiyan Fu, Ruiqin Zhao, Xiaoyun Jia, Xiaolei Li, Guigui Li, Chunlan Yin
Summary: The study analyzed the clinical and genetic data of neonatal Dubin-Johnson syndrome (NDJS) and found diverse ABCC2 gene variants in patients, expanding the mutation spectrum. Patients with NDJS showed significantly higher levels of total bilirubin but lower levels of alanine transaminase and direct bilirubin/total bilirubin ratio compared to patients with idiopathic cholestasis (IC).
PEDIATRIC RESEARCH
(2022)
Article
Pediatrics
Jia-Xin Xu, Fen Lin, Zi-Kai Chen, Zhao-Yun Luo, Xiao-Fen Zhan, Jiao-Ren Wu, Yu-Bin Ma, Jian-Dong Li, Li-Ye Yang
Summary: The study showed a significant association between neonatal hyperbilirubinemia and G6PD deficiency in Chaozhou city. Neonates with G6PD deficiency had higher bilirubin levels, especially those with c.1388G > A variant.
Article
Medicine, General & Internal
Soma Ghosh, Soma Ray, Tarak Nath Ghosh
Summary: This study aimed to investigate the spectrum of neonatal hyperbilirubinemia, examine the relevance of G6PD deficiency in unexplained cases of neonatal hyperbilirubinemia, and evaluate the outcomes in cases of deficiency of the enzyme. The results showed that G6PD deficiency is a common enzyme defect causing severe indirect hyperbilirubinemia in neonates, which can result in kernicterus and neurological damage. Early neonatal screening programs should be implemented in areas where the deficiency is prevalent.
BANGLADESH JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Genetics & Heredity
Leilei Gu, Yue Han, Donghua Zhang, Qiming Gong, Xinxin Zhang
Summary: The study utilized genetic testing of UGT1A1 to facilitate the diagnosis of Gilbert syndrome and discovered the similar pathogenic variant spectrum in the Chinese population compared to other Asian populations. These findings are significant for the clinical diagnosis of Gilbert syndrome and provide valuable insights for further research on novel pathogenic variants.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Pediatrics
Laura Cozzi, Federica Nuti, Irene Degrassi, Daniela Civeriati, Giulia Paolella, Gabriella Nebbia
Summary: Through the analysis of two cases of Chinese neonates, we found that the homozygous P364L variant may be associated with severe neonatal unconjugated hyperbilirubinemia, but jaundice can completely resolve in a few months.
ITALIAN JOURNAL OF PEDIATRICS
(2022)