AN ATTEMPT TO UNDERSTAND THE GLUCOSE 6-PHOSPHATE DEHYDROGENASE (G6PD) DEFICIENCY

Biochemistry

G6PD deficiency is one of the most prevalent human enzymopathies, and it is caused by hereditary mutations in the X-linked gene G6PD. G6PD insufficiency has been documented in as many as 400 different genetic variations, with 186 of them having a recognized mutation. Variants are defined by the World Health Organization (WHO) based on residual enzyme activity and illness severity. Red blood cells with a G6PD deficiency are more prone to oxidative damage and thus hemolysis. Almost of G6PD mutations are missense mutations that result in amino acid substitutions that result in a lack of G6PD enzyme function: the protein's stability is compromised, the catalytic activity is reduced, or a combination of both causes occurs. The reasons for glucose-6-phosphate dehydrogenase insufficiency are discussed in this activity, as well as the role of the interprofessional team in evaluating and managing individuals with this illness.

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