Related Experiment Video

Updated: Aug 13, 2026

Biochemical Measurement of Neonatal Hypoxia
13:13

Biochemical Measurement of Neonatal Hypoxia

Published on: August 24, 2011

Gilbert's syndrome and jaundice in glucose-6-phosphate dehydrogenase deficient neonates

A Iolascon1, M F Faienza, S Perrotta

  • 1Dipartimento di Biomedicina dell'Età Evolutiva, Università di Bari, Italy. a.iolascon@bioetaev.uniba.it

Haematologica
|March 26, 1999
PubMed

Insights

Gilbert's syndrome does not cause hyperbilirubinemia in neonates with glucose-6-phosphate dehydrogenase deficiency. Hemolysis is also unlikely to be the primary cause of jaundice in these infants.

Area of Science:

  • Neonatal Medicine
  • Genetics
  • Biochemistry

Background:

  • Hyperbilirubinemia affects about 30% of neonates with glucose-6-phosphate dehydrogenase (G6PD) deficiency.
  • The exact cause of this hyperbilirubinemia remains unclear.

Purpose of the Study:

  • To investigate the role of Gilbert's syndrome, a common defect in bilirubin conjugation, in neonatal hyperbilirubinemia associated with G6PD deficiency.

Main Methods:

  • Studied 102 neonates with G6PD deficiency (56 with hyperbilirubinemia, 46 with normal bilirubin levels).
  • Analyzed the A(TA)nTAA motif in the UGT1A gene promoter using PCR and polyacrylamide gel electrophoresis.

Main Results:

  • No significant difference in the frequency of UGT1A gene genotypes, including the (TA)7 variant associated with Gilbert's syndrome, between neonates with and without hyperbilirubinemia.
  • The percentage of homozygotes for the UGT1A (TA)7 variant was similar in both groups.

Conclusions:

  • Gilbert's syndrome does not explain the hyperbilirubinemia observed in some neonates with G6PD deficiency.
  • These findings suggest that hemolysis is not the primary factor in the pathogenesis of hyperbilirubinemia in this patient group.
Abstract

More Related Videos

Isolation of Neonatal Extrahepatic Cholangiocytes07:54

Isolation of Neonatal Extrahepatic Cholangiocytes

Published on: June 5, 2014

Extrahepatic Bile Duct and Gall Bladder Dissection in Nine-Day-Old Mouse Neonates06:10

Extrahepatic Bile Duct and Gall Bladder Dissection in Nine-Day-Old Mouse Neonates

Published on: August 23, 2022

Related Concept Videos

Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Transcytosis of IgG01:15

Transcytosis of IgG

Transcytosis is the process in which molecules are internalized by endocytosis, transported across the cell, and released through exocytosis from the opposite end of the cell. Molecules such as insulin, immunoglobulins, and certain nutrients are transferred through the recycling endosomes by recycling and transcytosis.
IgG molecules from a mother undergo transcytosis starting around 13 weeks of gestation. The amount of IgG transferred and entering the fetal blood circulation increases with...
Diseases of the Liver and Gallbladder01:26

Diseases of the Liver and Gallbladder

Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not related to...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Pathophysiology of Diabetes01:20

Pathophysiology of Diabetes

Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility, suggesting a...
Jaundice01:25

Jaundice

Jaundice, or icterus, is the yellow discoloration of the skin, sclerae, and mucous membranes. It happens when plasma bilirubin levels rise above 2.5-3 mg/dL, leading to bilirubin deposition in tissue.Bilirubin is a byproduct of hemoglobin degradation. In macrophages, hemoglobin breaks down into globin and heme. Globin is converted into amino acids, while heme is turned into biliverdin by heme oxygenase, which is then reduced to unconjugated bilirubin by biliverdin reductase.Unconjugated...