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Glucose-6-phosphate dehydrogenase deficiency
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Glucose-6-phosphate dehydrogenase deficiency, abbreviated G6PD deficiency, is a disorder of an enzyme, one of those proteins that make a chemical reaction possible. It is X-linked, carried on the X chromosome, one of the chromosomes that determine sex, and it leaves the cell poorly defended against oxidative stress, the damage caused by highly reactive molecules derived from oxygen.
The G6PD enzyme makes NADPH, and NADPH maintains the supply of reduced glutathione, the molecule red blood cells use to turn hydrogen peroxide, which would damage them, into water. When enzyme levels are low, that reserve runs out at the first hint of oxidative stress. It is a fire extinguisher that runs empty just as the fire starts.
Red blood cells are then destroyed early, something called hemolysis. It is triggered by infections, certain medications, or eating fava beans.
In brief
Glucose-6-phosphate dehydrogenase deficiency, or G6PD deficiency, is an X-linked enzyme disorder that weakens the cell's defense against oxidative stress.
G6PD makes NADPH, which keeps up the supply of reduced glutathione that red blood cells use to turn hydrogen peroxide into water; with too little enzyme, that reserve runs out.
It is a fire extinguisher that runs empty just as the fire starts.
Red blood cells are then destroyed early, an episode of hemolysis triggered by infections, certain medications, or fava beans.
Sources (2)
- National Center for Biotechnology Information, StatPearls PublishingGlucose-6-Phosphate Dehydrogenase Deficiency, StatPearlsPublished
- MedlinePlus Genetics, U.S. National Library of MedicineGlucose-6-phosphate dehydrogenase deficiency, MedlinePlus GeneticsPublished
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
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