Referentne vrijednosti za kvantitativno ispitivanje G6PD deficita kod novorođenčadi iz Republike Sjeverne Makedonije

Abstract

Glucose-6-phosphate dehydrogenase is a key regulatory enzyme in the pentose-phosphate cycle that participates in the formation of reduced equivalents to maintain the cellular redox status. The G6PD enzyme activity is crucial in protecting cells from oxidative stress. Deficit of the glucose-6-phosphate dehydrogenase (G6PD) has been recognized as the most common inherited enzymopathy worldwide. In the Republic of North Macedonia (RNM), the deficit of glucose-6-phosphate dehydrogenase has been infrequently investigated. Moreover, no reports exist on quantitative testing of G6PD in newborns from the RNM. SCOPE: The aim of our study was to determine the reference values for the level of G6PD in erythrocytes of newborns from the Republic of North Macedonia. For this purpose, eighty-two healthy newborns were selected and tested for G6PD by the quantitative spectrophotometric method. RESULTS: The mean ± SD of the G6PD quantitative value in the examined group was 229.12 ± 24.2 mU/109Er ranging from a minimum of 191.7 to a maximum of 288, and a median of 228.0 mU/109Er, values that were lower than the preset reference values of the diagnostic test in use. CONCLUSION: We speculated that by establishing a specific reference value (range) for the target population and for the appropriate diagnostic test, we would gain increased sensitivity of the test. This would help optimize detection of G6PD deficient newborns, mild-variant hemizygotes and female heterozygotes for the deficiency.