hexokinase deficiency

GPTKB entity

Statements (18)
Predicate Object
gptkbp:instanceOf gptkb:disease
enzyme deficiency
gptkbp:affects red blood cells
gptkbp:cause gptkb:anemia
gptkbp:diagnosedBy genetic testing
enzyme assay
gptkbp:firstDescribed 1960s
https://www.w3.org/2000/01/rdf-schema#label hexokinase deficiency
gptkbp:inheritance autosomal recessive
gptkbp:involves hexokinase enzyme
gptkbp:OMIM 235700
gptkbp:symptom fatigue
jaundice
pallor
gptkbp:treatment supportive care
blood transfusion
gptkbp:bfsParent gptkb:hexokinase_I
gptkbp:bfsLayer 7