Glucose-6-phosphate Dehydrogenase Deficiency: A Review

  • Nidhruv Ravikumar Queen's University Belfast, Ireland
  • Graeme Greenfield Queen’s University Belfast, Ireland
Keywords: Glucosephosphate dehydrogenase deficiency, Haemolytic anaemia, Neonatal jaundice, Erythrocytes

Abstract

Deficiency of glucose-6-phosphate dehydrogenase enzyme is a common X-linked disorder that affects humans 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 haemolytic anaemia, neonatal jaundice and chronic nonspherocytic haemolytic anaemia. The deficiency has been extensively studied and especially in the last 5 years there have been improvements in the diagnosis and management. Various methods of diagnosis exist, however recent research focusses on the use of biosensors for more accurate and less time-consuming diagnosis. Guidelines suggest on controlling symptomology as there exists no specific treatment. Neonatal jaundice is a common complication of the disease and research on phototherapy has proved to show some effect in managing this condition. In the last year, protein-protein interactions have been studied and are used as a target to enhance enzyme stability and activity. AG1 is a small molecule activator that has demonstrated effectiveness in treating G6PD deficiency in models. The purpose of this review is to summarize existing literature and potential areas of research on glucose-6-phosphate dehydrogenase deficiency including clinical characteristics, diagnosis and management.

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Published
2020-12-17
How to Cite
Ravikumar, N., & Greenfield, G. (2020). Glucose-6-phosphate Dehydrogenase Deficiency: A Review . International Journal of Medical Students, 8(3), 281-287. https://doi.org/10.5195/ijms.2020.637
Section
Review