Abstract
BackgroundGlucose-6-phosphate dehydrogenase (G6PD) deficiency is commonly detected during mass screening for neonatal disease. We developed a method to measure reduced glutathione (GSH) and glutathione disulfide (GSSG) using tandem mass spectrometry (MS/MS) for detecting G6PD deficiency.MethodsThe concentration of GSH and the GSH/GSSG ratio in newborn dry-blood-spot (DBS) screening and in blood plus sodium citrate for test confirmation were examined by MS/MS using labeled glycine as an internal standard.ResultsG6PD-deficient newborns had a lower GSH content (242.9 ± 15.9 μmol/L)and GSH/GSSG ratio (14.9 ± 7.2) than neonatal controls (370.0 ± 53.2 μmol/L and 46.7 ± 19.6, respectively). Although the results showed a significance of P < 0.001 for DBS samples plus sodium citrate that were examined the first day after preparation, there were no significant differences in the mean GSH concentration and GSH/GSSG ratio between the G6PD deficiency-positive and negative groups when examined three days after sample preparation.ConclusionThe concentration of GSH and the ratio of GSH/GSSG in blood measured using MS/MS on the first day of sample preparation are consistent with G6PD activity and are helpful for diagnosing G6PD deficiency.
Highlights
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is commonly detected during mass screening for neonatal disease
Glucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-chromosome-linked genetic disorder, is the most prevalent mutation in humans, affecting more than 400 million people worldwide [1]. This disorder is characterized by decreased activity of the G6PD enzyme, which is the central factor of the antioxidant defense system in red blood cells (RBCs)
The enzyme is responsible for maintaining high levels of reduced glutathione (GSH) and nicotine adenine dinucleotide phosphate (NADPH), which protect the cell from the oxidative damage caused by reactive oxygen species
Summary
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is commonly detected during mass screening for neonatal disease. We developed a method to measure reduced glutathione (GSH) and glutathione disulfide (GSSG) using tandem mass spectrometry (MS/MS) for detecting G6PD deficiency. Glucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-chromosome-linked genetic disorder, is the most prevalent mutation in humans, affecting more than 400 million people worldwide [1]. This disorder is characterized by decreased activity of the G6PD enzyme, which is the central factor of the antioxidant defense system in red blood cells (RBCs). The enzyme is responsible for maintaining high levels of reduced glutathione (GSH) and nicotine adenine dinucleotide phosphate (NADPH), which protect the cell from the oxidative damage caused by reactive oxygen species. The defect can result in such complications as kidney failure, severe neonatal jaundice, or gallstones, and may require blood transfusion [4]
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