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The association analysis between Glucose-6-Phosphate dehydrogenase deficiency and susceptibility to common diseases

De-Feng Liang1, Xue Li2, Wen-Lin Guo3

  • 1Department of Emergency, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, Guangdong, China.

Pediatric Research
|May 27, 2025
PubMed

Insights

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is linked to higher risks of autoimmune diseases, congenital heart defects, and type 1 diabetes in children. This finding highlights G6PD deficiency

Area of Science:

  • Pediatric Medicine
  • Genetics
  • Immunology
  • Cardiology

Background:

  • Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited enzyme disorder.
  • The association between G6PD deficiency and susceptibility to pediatric diseases requires further investigation.

Purpose of the Study:

  • To investigate the relationship between G6PD deficiency and the risk of developing common pediatric diseases.
  • To identify specific pediatric conditions associated with G6PD deficiency in a large cohort of children.

Main Methods:

  • Retrospective analysis of hospitalized children undergoing G6PD screening.
  • Data collected from January 2019 to March 2024 at Guangzhou Women and Children's Medical Center.
  • Statistical analysis of G6PD deficiency prevalence across various pediatric conditions in males and females.

Main Results:

  • In males, G6PD deficiency was significantly associated with nephritis, allergic purpura, patent ductus arteriosus, atrial septal defect, ventricular septal defect, and type 1 diabetes.
  • In females, G6PD deficiency showed significant associations with systemic lupus erythematosus (SLE), juvenile arthritis, nephritis, patent ductus arteriosus, atrial septal defect, and ventricular septal defect.
  • The study identified a novel association between G6PD deficiency and an increased incidence of congenital heart disease in children.

Conclusions:

  • G6PD deficiency may increase the risk of autoimmune diseases, congenital heart defects, and type 1 diabetes in pediatric populations.
  • The findings suggest G6PD deficiency impacts immune and cardiovascular systems, extending beyond its role as an enzymatic defect.
  • Further research is warranted to elucidate the precise mechanisms and inform clinical management strategies for G6PD-deficient children.
Abstract

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