Glucose-6-phosphate Dehydrogenase Deficiency: A Review

Deficiency of the glucose-6-phosphate dehydrogenase (G6PD) enzyme is a common X-linked disorder that affects people globally. It was first identified in the 1950s as a disorder that primarily affects the red blood cells, causing a myriad of symptoms including acute hemolytic anemia, neonatal jaundice and chronic nonspherocytic hemolytic anemia. This deficiency has been extensively studied and, especially within the last 5 years, there have been improvements in the diagnosis and management. Various methods of diagnosis exist; however, recent research focuses on the use of biosensors for a more accurate and less time-consuming diagnosis. Guidelines suggest controlling symptomology, as no specific treatment currently exists. A common complication of the disease is neonatal jaundice, and research on phototherapy has proved to show some effect in managing this condition. In the last year, protein-protein interactions have been used as targets to enhance enzyme stability and activity. AG1 is a small molecule activator that has demonstrated effectiveness in treating G6PD deficiency in models. This review summarizes existing literature and potential areas of research on glucose6-phosphate dehydrogenase deficiency including clinical characteristics, diagnosis, and management.