Glucose-6-phosphate dehydrogenase deficiency disease:current status / 国际儿科学杂志

ABSTRACT

Glucose-6-phosphatedehydrogenase( G6PD) is the main regulatory enzyme of pentose-phos-phate pathway,which plays an important role in maintaining the balance of cell energy and redox reactions in the cell. G6PD deficiency is the most common hereditary erythrocyte enzyme deficiency disease. There are no effective treatments for the disease. Currently,the key of control and treatment is to make a definitive diagnosis in time and keep away from related risk factors of the disease. At present,the main clinical diagnostic method is the detection of G6PD enzyme activity,but it is limited in accuracy of detecting the heterozygote females. It has already been confirmed at home and abroad that G6PD heterozygote is a risk factor of neonatal hyperbilirubi-nemia. Thus,the detection method of different genotypes of G6PD deficiency at the same time is urgently needed in clinical diagnosis. This paper reviews on recent research progress of the G6PD deficiency disease.