摘要
葡萄糖-6-磷酸脱氢酶（ glucose-6-phosphate dehydrogenase,G6PD）是磷酸戊糖途径的主要调节酶,对维持细胞内能量代谢和氧化还原反应的平衡起着重要作用。 G6PD缺乏症是最常见的遗传性红细胞酶缺陷病。目前尚无有效治疗方法,防治重点是尽早明确诊断,避免接触易导致发病的敏感性因素。目前应用于临床诊断的方法主要是G6PD酶活性的检测,该方法对女性杂合子检出率低。国内外研究表明, G6PD杂合子是新生儿高胆红素血症的危险因素。临床迫切需要可以同时检出G6PD缺乏症不同基因型的诊断方法。该文就G6PD缺乏症的研究现状作一综述。
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.
出处
《国际儿科学杂志》
2014年第4期373-375,379,共4页
International Journal of Pediatrics
基金
东莞市科技计划重点项目（2011105102017）
