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

Updated: Feb 19, 2019
  • 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 the most common enzyme deficiency in humans, affecting 400 million people worldwide. [1] It has a high prevalence in persons of African, Asian, and Mediterranean descent. It is inherited as an X-linked recessive disorder. G6PD deficiency is polymorphic, with more than 300 variants. G6PD deficiency confers partial protection against malaria [2] , which probably accounts for the persistence and high frequency of the responsible genes. [3, 4, 5, 6, 7]

G6PD deficiency can present as neonatal hyperbilirubinemia. [8, 9] In addition, persons with this disorder can experience episodes of brisk hemolysis after ingesting fava beans or being exposed to certain infections or drugs. [10] Less commonly, they may have chronic hemolysis. However, many individuals with G6PD deficiency are asymptomatic.


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