Reference levels for glucose-6-phosphate dehydrogenase enzyme activity in infants 7-90 days old in Taiwan

Wen-Chien Yang1, Shin Tai2, Chu-Ling Hsu3

  • 1Department of Pediatrics, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu, Taiwan; Department of Global Health and Population, Harvard T. H. Chan School of Public Health, Boston, United States.

Insights

Newborn screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency in Taiwan now has reference values for infants aged 7-90 days. This study determined G6PD enzyme activity levels across different genotypes to aid accurate diagnosis.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Taiwan has implemented nationwide newborn screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency since 1987.
  • G6PD enzyme activity levels are used for diagnosis confirmation.
  • Reference values for G6PD enzyme activity were unavailable for infants aged 7-90 days.

Purpose of the Study:

  • To determine glucose-6-phosphate dehydrogenase (G6PD) enzyme activity levels in infants aged 7-90 days.
  • To establish reference values for G6PD enzyme activity based on different genotypes.
  • To support accurate diagnosis of G6PD deficiency in infants.

Main Methods:

  • Enrolled 410 term infants aged 7-90 days at National Taiwan University Hospital Hsinchu branch between January 2016 and June 2017.
  • Compared G6PD enzyme activities among different genotype groups.
  • Analyzed G6PD enzyme activity levels in relation to infant age and genotype.

Main Results:

  • G6PD enzyme activity was negatively correlated with age (R = -0.212, p = 0.01).
  • Significant differences in G6PD enzyme activity were observed among infants with different G6PD genotypes (hemizygotes, heterozygotes, and non-mutated).
  • Specific G6PD enzyme activity levels were reported for infants under and over 30 days old across genotypes.

Conclusions:

  • Established G6PD enzyme activity levels for infants aged 7-90 days in Taiwan.
  • Highlighted the importance of genotype-specific reference data for accurate G6PD deficiency diagnosis.
  • Emphasized the need for defined cutoff values to aid pediatricians in diagnosing G6PD deficiency.
Abstract

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