Possible Delayed Activation of Uridine Diphosphate Glucuronosyl Transferase (UGT) Enzyme causing Severe Unconjugated Hyperbilirubinemia in a Newborn
Neonatal jaundice is a common medical condition in newborns. Some babies require phototherapy but very few babies develop bilirubin encephalopathy or require exchange transfusion. Most of them are due to haemolytic conditions and UGT enzyme deficiency syndromes. We present a case with serum bilirubin > 50 mg/dl at presentation who required four times exchange transfusions and then recovered completely without residual damage, whose investigations revealed no plausible explanation for such high unconjugated bilirubinemia and the clinical course underlining the transient nature of the disease thus suspected of delayed maturation of UGT enzyme activity in a term neonate. UGT enzyme activity may remain absent in the early few days leading to severe unconjugated bilirubinemia requiring multiple exchange transfusions, however, complete enzymatic activation may happen by day 10 and the baby may recover without any residual damage.
How to cite this article:
Chowdhry BK, Singh R, Prasad A, Kumar CM, Singh S. Possible Delayed Activation of Uridine Diphosphate Glucuronosyl Transferase (UGT) Enzyme causing Severe Unconjugated Hyperbilirubinemia in a Newborn. Postgrad J Pediatr Adol Med. 2022;1(1):52-58.
Bedi N, Kumar CM, Singh S. A study of neonatal hyperbilirubinemia from a tertiary care hospital in Northern India. Indian J Child Health. 2018;5(12):717-19. [Google Scholar]
Steiner LA, Bizzarro MJ, Ehrenkranz RA, Gallagher PG. A decline in the frequency of neonatal exchange transfusions and its effect on exchange-related morbidity and mortality. Pediatrics. 2007;120(1):27-32. [PubMed] [Google Scholar]
Murray NA, Roberts IA. Haemolytic disease of the newborn. Arch Disease Child Fetal Neonatal Ed. 2007;92(2):F83-8. [PubMed] [Google Scholar]
Newman TB, Easterling MJ, Goldman ES, Stevenson DK. Laboratory evaluation of jaundice in newborns. Frequency, cost, and yield. Am J Dis Child. 1990;144(3):364-8. [PubMed] [Google Scholar]
Narang A, Gathwala G, Kumar P. Neonatal jaundice: an analysis of 551 cases. Indian Pediatr. 1997;34(5):429-32. [PubMed] [Google Scholar]
Sumida K, Kawana M, Kouno E, Itoh T, Takano S, Narawa T, Tukey RH, Fujiwara R. Importance of UDP glucuronosyltransferase 1A1 expression in skin and its induction by UVB in neonatal hyperbilirubinemia. Mol Pharmacol. 2013;84(5):679-86. [PubMed] [Google Scholar]
Rosenthal P, Blanckaert N, Kabra PM, Thaler MM. Formation of bilirubin conjugates in human newborns. Pediatr Res. 1986;20(10):947-50. [PubMed] [Google Scholar]
Ono H, Mawatari H, Mizoguchi N, Eguchi T, Sakura N, Hamakawa M. Delay of liver maturation as a cause of transient neonatal galactosemia. Pediatr Int. 2000;42(1):61-3. [PubMed] [Google Scholar]
Nazer H, Roy PK. Unconjugated hyperbilirubinemia. Medscape [Internet]; 2020 [cited 2021 Apr 9]. Available from: https://emedicine.medscape.com/article/178841-overview#a3
Kawade N, Onishi S. The prenatal and postnatal development of UDP-lucuronyltransferase activity towards bilirubin and the effect of premature birth on this activity in the human liver. Biochem J. 1981;196(1):257-60. [PubMed] [Google Scholar]