/G6PD deficiency

G6PD deficiency

Rare Disease

MONDO:0005775

Also Known As

G-6-PD variant enzyme deficiency AnaemiaG-6-PD variant enzyme deficiency AnemiaG6PDG6PD deficiencydeficiency of G-6PDglucose-6-phosphate dehydrogenase deficiencyglucosephosphate dehydrogenase deficiencyinborn error of glucose-6-phosphate dehydrogenase activityinborn glucose-6-phosphate dehydrogenase activity disorderrare inborn error of glucose-6-phosphate dehydrogenase activity

Definition

An X-linked genetic condition caused by alterations in the gene G6PD that result in moderately to severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Most individuals with G6PD deficiency are asymptomatic throughout their life. Individuals with G6PD variants that cause G6PD deficiency are at risk for severe neonatal jaundice. These individuals are also at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.