In plain words
G6PD deficiency is a common inherited condition. The body makes too little of an enzyme that protects red blood cells from damage. Many people never have symptoms. Others see their red cells break down when they meet certain triggers, such as some infections or some foods and medicines. In newborns, the main concern is . A baby with this condition may have yellowing that rises faster than expected. A simple blood test can check for it, and clinicians may order it when a baby has significant jaundice. Mothers often first hear the term from a pediatrician or a lab report. The condition is inherited on the X chromosome, so it is more common in males. It is found most often in people with ancestry from parts of Africa, the Mediterranean, the Middle East, and Asia.
The deeper version
G6PD deficiency is an X-linked disorder of glucose-6-phosphate dehydrogenase, the rate-limiting enzyme of the pentose phosphate pathway. It supplies NADPH to maintain reduced glutathione in erythrocytes. Low antioxidant capacity leaves red cells open to oxidative hemolysis, which infection, fava beans, and certain drugs can provoke. Howes and colleagues (PLoS Medicine, 2012) mapped the global distribution, which covers several hundred million people. In neonates, G6PD deficiency adds to hemolytic alongside ABO and Rh incompatibility. The AAP's 2022 hyperbilirubinemia guideline (Kemper and colleagues) lists it among causes to assess when hemolysis is suspected. Quantitative enzyme assay can read falsely normal during reticulocytosis or after transfusion, so timing matters. Universal newborn screening is not routine in most US settings, and the balance of testing benefits against carrier identification is debated.
Where it comes up
- Newborn jaundiceBaby Basics
- Feeding a baby with jaundiceFeeding Your Baby
- Newborn weight: the early drop and regainingBaby Basics
What mothers here say about G6PD deficiency
No one has posted under this term yet.
Sources
- Kemper AR and colleagues (American Academy of Pediatrics) — Clinical practice guideline revision: management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation. Pediatrics, 2022
- Howes RE and colleagues — Global epidemiology of G6PD deficiency. PLoS Medicine, 2012