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G6PD deficiency as a underrecognized genetic risk factor for rare neurological disorders: evidence from a

Qi Peng1,2,3, Siping Li1, Fen Lv1,2,3

  • 1Laboratory Department, Dongguan Children's Hospital, Dongguan, Guangdong, China.

Frontiers in Genetics
|February 20, 2026
PubMed

Insights

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is linked to a higher risk of rare neurological disorders in Chinese children. This suggests G6PD deficiency may impact neurodevelopment beyond its known effects on hemolytic anemia.

Area of Science:

  • Genetics
  • Neurology
  • Biochemistry

Background:

  • Glucose-6-phosphate dehydrogenase (G6PD) deficiency is primarily known for causing drug- or infection-induced hemolytic anemia.
  • Emerging research suggests G6PD may play a role in neurodevelopment, but its link to rare neurological disorders is not well-studied in population genetics, particularly in China.

Purpose of the Study:

  • To investigate the association between common pathogenic G6PD variants and rare neurological disorders in Chinese children.
  • To explore potential sex-specific and maternal genetic contributions to this association.

Main Methods:

  • A retrospective case-control study using whole-exome sequencing (WES) data from a Chinese cohort.
  • Screening of six prevalent pathogenic G6PD variants in 211 children with rare neurological disorders and 202 controls.
  • Statistical analysis including genotype and carrier frequency comparisons, stratified analyses, and multivariable logistic regression to calculate sex-adjusted odds ratios.

Main Results:

  • The carrier rate of pathogenic G6PD variants was significantly higher in children with neurological disorders compared to controls (adjusted OR = 2.44).
  • Affected males showed a higher carrier rate than their fathers, and mothers of cases had a higher carrier rate than mothers of controls.
  • G6PD Canton (c.1376G>T) and G6PD Kaiping (c.1388G>A) were the most frequent variants observed.

Conclusions:

  • G6PD deficiency may be an underrecognized genetic risk factor for rare neurological disorders in Chinese children.
  • Findings suggest a potential maternal genetic influence and broaden the phenotypic spectrum of G6PD deficiency to include neurodevelopmental vulnerability.
  • Further research with functional validation and enzyme activity assessment is needed to confirm these preliminary findings.
Abstract

Keywords:
Chinese populationG6PD deficiencygenetic risk factorneurodevelopmentneurological disorderspathogenic variantswhole-exome sequencing

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