G6PD deficiency

GPTKB entity

Statements (31)
Predicate Object
gptkbp:instanceOf genetic disorder
enzyme deficiency
gptkbp:affects glucose-6-phosphate dehydrogenase enzyme
gptkbp:cause gptkb:chronic_non-spherocytic_hemolytic_anemia
gptkbp:causedBy mutation in G6PD gene
gptkbp:complication gptkb:acute_hemolytic_anemia
gptkb:neonatal_jaundice
gptkbp:detects genetic testing
enzyme assay
gptkbp:diagnosedBy blood test
gptkbp:firstDescribed 1926
gptkbp:frequency over 400 million people worldwide
https://www.w3.org/2000/01/rdf-schema#label G6PD deficiency
gptkbp:ICD-10_code D55.0
gptkbp:inheritance X-linked recessive
gptkbp:MeSH_ID D006060
gptkbp:namedAfter gptkb:glucose-6-phosphate_dehydrogenase
gptkbp:OMIM 300908
gptkbp:prevalence common in people of African, Mediterranean, and Asian descent
gptkbp:riskFactor family history
male sex
gptkbp:symptom gptkb:anemia
fatigue
jaundice
gptkbp:treatment avoidance of triggers
supportive care during hemolytic episodes
gptkbp:triggeredBy infections
certain foods (e.g., fava beans)
certain medications (e.g., sulfa drugs, antimalarials)
gptkbp:bfsParent gptkb:anemia
gptkbp:bfsLayer 5