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G6PD deficiency

MONDO:0005775

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.

Also known as: G-6-PD variant enzyme deficiency Anaemia, G-6-PD variant enzyme deficiency Anemia, G6PD, G6PD deficiency, glucose-6-phosphate dehydrogenase deficiency, glucosephosphate dehydrogenase deficiency, inborn error of glucose-6-phosphate dehydrogenase activity, inborn glucose-6-phosphate dehydrogenase activity disorder

30 clinical trials for this condition and its sub-types.

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Sub-types

Anemia, nonspherocytic hemolytic, due to G6PD deficiency (1) Class V glucose-6-phosphate dehydrogenase deficiency (0) Favism (0)

Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn errors of metabolism (42) Human disease (14) Carbohydrate metabolism disease (3) Disease of genetic or genomic mechanism (2) Inborn carbohydrate metabolic disorder (2) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)
Trials to join now! 15 Not yet recruiting 4 Not yet finished but already full! 4 Completed 7
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