Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Glucose-6-phosphate dehydrogenase deficiency


Other Names for this Disease

  • G6PD deficiency
  • Hemolytic anemia due to G6PD deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Cause

Newline Maker

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

Glucose 6 phosphate dehydrogenase (G6PD) deficiency is caused by mutations in the G6PD gene. This gene provides instructions for making an enzyme called glucose-6-phosphate dehydrogenase, which is involved in the normal processing of carbohydrates. This enzyme also protects red blood cells from the effects of potentially harmful molecules called reactive oxygen species. Reactive oxygen species are byproducts of normal cellular functions. Chemical reactions involving glucose-6-phosphate dehydrogenase produce compounds that prevent reactive oxygen species from building up to toxic levels within red blood cells.[1]

Mutations in the G6PD gene reduce the amount of glucose-6-phosphate dehydrogenase or alter its structure, which means that this enzyme can no longer play its protective role. As a result, reactive oxygen species can accumulate and damage red blood cells. Factors such as infections, certain drugs, or eating fava beans can increase the levels of reactive oxygen species, causing red blood cells to be destroyed faster than the body can replace them. A reduction in the amount of red blood cells causes the signs and symptoms of hemolytic anemia.[1]
Last updated: 10/11/2011

References
  1. Glucose-6-phosphate dehydrogenase deficiency. Genetics Home Reference (GHR). May 2006; http://www.ghr.nlm.nih.gov/condition/glucose-6-phosphate-dehydrogenase-deficiency. Accessed 10/11/2011.


Other Names for this Disease
  • G6PD deficiency
  • Hemolytic anemia due to G6PD deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.