El-Hazmi M A, Warsy A S
Associate Professor of Medical Biochemistry and Vice Dean of Academic Affairs, College of Medicine, and Assistant Professor of Biochemistry, Centre for Science and Medical Studies for Girls, King Saud University, Riyadh, Saudi Arabia.
Ann Saudi Med. 1985 Oct;5(4):213-23. doi: 10.5144/0256-4947.1985.213.
Glucose 6-phosphate dehydrogenase (G6PD) is the first enzyme of the pentose phosphate pathway. It exists in over 250 variants which are divided broadly into five classes on the basis of residual enzyme activity and clinical manifestations. The variants with reduced activity result in G6PD deficiency. This is inherited as an X-linked recessive disorder and occurs at a much higher frequency in the male than in the female. Most G6PD deficient individuals show no clinical abnormality under normal conditions, but acute hemolytic crisis may occur. Several nonhemolytic abnormalities occur as well in G6PD deficients at a higher frequency than in nondeficients. Several nonhemolytic abnormalities occur as well in G6PD deficients at a higher frequency than in nondeficients. The genetic, pathophysiologic, and therapeutic aspects of G6PD deficiency are presented; and the possibility of genetic counselling, care in blood banks, and benefits of education the G6PD deficients are discussed.
葡萄糖-6-磷酸脱氢酶（G6PD）是磷酸戊糖途径的首个酶。它存在超过250种变体，根据残余酶活性和临床表现大致分为五类。活性降低的变体导致G6PD缺乏症。这是一种X连锁隐性疾病，男性发病率远高于女性。大多数G6PD缺乏个体在正常情况下无临床异常，但可能发生急性溶血危机。G6PD缺乏者还会出现几种非溶血性异常，其发生频率高于非缺乏者。本文介绍了G6PD缺乏症的遗传、病理生理和治疗方面；并讨论了遗传咨询的可能性、血库护理以及对G6PD缺乏者进行教育的益处。
