What is glucose-6-phosphate dehydrogenase (G6PD) deficiency?

Updated: May 01, 2020
  • Author: Srikanth Nagalla, MBBS, MS, FACP; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a hereditary condition resulting from a structural defect in G6PD, a "housekeeping" enzyme that is particularly important for the survival of red blood cells and their ability to respond to oxidative stress. [1] G6PD deficiency is the most common enzyme deficiency in humans, affecting about 400 million people worldwide, with a high prevalence in persons of African, Asian, and Mediterranean descent. [2] It is inherited as an X-linked recessive disorder, and thus most often affects males. G6PD deficiency is polymorphic, with more than 300 variants.

G6PD deficiency confers partial protection against malaria, and geographic prevalence of the disorder correlates with the historical distribution of malaria. This probably accounts for the persistence and high frequency of the responsible genes. [3, 4, 5, 6, 7]


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