Role of glucose-6-phosphate dehydrogenase for oxidative stress and apoptosis

Dear Editor,

Loss of function of glucose-6-phosphate dehydrogenase (G6PD) represents the most common inborn error of metabolism throughout the world which is known as G6PD-deficiency affecting an estimated 400 million people.¹ Prolonged neonatal jaundice and hemolytic anemia are common clinical manifestations. Infections, ingestion of fava beans, and some drugs can trigger life-threatening hemolytic anemia. G6PD is the first enzyme of the pentose phosphate pathway that converts α-D-glucose-6-phospate into D-glucono-1,5-lactone-6-phosphate and is involved in the generation of NADPH. As erythrocytes lack the citric acid cycle, the pentose phosphate shunt is the only source of NADPH. NADPH is required for the generation of reduced glutathione, which is important for the protection against oxidative damage. As the G6PD gene is located at the X-chromosome at Xq28,² the disease is recessively inherited in males. Some 140 missense mutations leading to amino-acid substitutions and in a few cases base pair deletions that do not produce frame shifts are known.³ Few splicing mutations have been documented.^{4, 5}

Log in or create a free account to read this content

Gain free access to this article, as well as selected content from this journal and more on nature.com

Access through your institution

or

Sign in or create an account

Continue with Google

Continue with ORCiD