G6PD deficiency
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.
MONDO:0019214
inborn carbohydrate metabolic disorder
is_a
G-6-PD variant enzyme deficiency Anaemia
exact
G-6-PD variant enzyme deficiency Anemia
exact
G6PD
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G6PD deficiency
exact
glucose-6-phosphate dehydrogenase deficiency
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glucosephosphate dehydrogenase deficiency
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inborn error of glucose-6-phosphate dehydrogenase activity
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inborn glucose-6-phosphate dehydrogenase activity disorder
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rare inborn error of glucose-6-phosphate dehydrogenase activity
exact
SPAC3A12.18 SPBC660.16