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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.
Background:
Nationwide newborn screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency has been implemented in Taiwan since 1987 and the G6PD enzyme activity levels were applied for diagnosis confirmation. As the reference value of G6PD enzyme activity was not available for infants aged 7-90 days, this study was performed to determine the enzyme level in different genotypes.
Methods:
Between January 1, 2016 and June 30, 2017, 410 term infants aged 7-90 days old visiting National Taiwan University Hospital Hsinchu branch were enrolled. The comparisons of G6PD enzyme activities among genotype groups were performed.
Results:
G6PD enzyme activity was negatively correlated with age (R = -0.212, p = 0.01). For infants under 30 days of age, the G6PD enzyme activity levels were 1.4 ± 0.9 U/g Hb in hemizygotes (n = 76), 6.5 ± 2.0 U/g Hb in heterozygotes (n = 47), and 13.6 ± 3.7 U/g Hb in those without G6PD mutations (n = 70). Among infants more than 30 days old, G6PD enzyme activity levels were 0.9 ± 0.5 U/g Hb in hemizygotes (n = 46), 6.0 ± 2.7 U/g Hb in heterozygotes (n = 23), and 11.7 ± 3.4 U/g Hb in those without G6PD mutations (n = 148). G6PD levels differed significantly among the groups defined by genotypes.
Conclusion:
We determined G6PD enzyme activity levels in infants aged between 7 and 90 days in Taiwan. Completing the reference data and determining the cutoff values for different G6PD deficiency disease statuses will help pediatricians to make accurate diagnoses.
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