Pathophysiology and Current Laboratory Investigations of Glucose-6-Phosphate Dehydrogenase Deficiency.

Abstract

Glucose-6-phosphate dehydrogenase catalyses the rate-determining step in the pentose phosphate pathway. Its activity is a key determinant of the reduced nicotinamide adenine dinucleotide phosphate to oxidized nicotinamide adenine dinucleotide phosphate (NADPH-to-NADP+) ratio in the cytoplasm and thus contributes to the replenishment of the antioxidant glutathione system. Glucose-6-phosphate dehydrogenase deficiency is a common X-linked human enzyme defect of red blood cells. Individuals with this gene defect appear normal until exposed to oxidative stress which induces haemolysis but it is infrequently taken into consideration in health practices. There is a need for the routine screening of subjects on a much wider scale for G-6-PD deficiency in our environment, especially in malaria endemic areas, where quinine and its derivatives are used. This would allow for evidence-based management of subjects with G-6-PD deficiency as well as educate them so as to avoid food, drugs, and other agents that can potentially redispose them to haemolytic crisis or oxidative stress. Data were collected from Tailor and Francis, PubMed, Springer, Nature, Google Scholar, MDPI, BMC and some other related data. In this review details on the molecular mechanisms, pathophysiology, laboratory investigation and possible therapeutic a p p r o a c h e s f o r G l u c o s e - 6 - P h o s p h a t e dehydrogenase deficiency were discussed.

Keywords

• pathophysiology, current laboratory investigation, g-6-pd and therapeutic approaches