|
gptkbp:instanceOf
|
gptkb:genetic_disorder
gptkb:enzyme_deficiency
|
|
gptkbp:affects
|
glucose-6-phosphate dehydrogenase enzyme
|
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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
|
gptkb:blood_test
|
|
gptkbp:firstDescribed
|
1926
|
|
gptkbp:frequency
|
over 400 million people worldwide
|
|
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:NP_000445.1
gptkb:methylene_blue
|
|
gptkbp:bfsLayer
|
6
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
G6PD deficiency
|