Swedish type porphyria

GPTKB entity

Statements (15)
Predicate Object
gptkbp:instanceOf gptkb:disease
porphyria
gptkbp:alsoKnownAs gptkb:acute_intermittent_porphyria
gptkbp:causedBy deficiency of porphobilinogen deaminase
gptkbp:diagnosedBy urine porphobilinogen test
gptkbp:firstDescribed gptkb:Sweden
https://www.w3.org/2000/01/rdf-schema#label Swedish type porphyria
gptkbp:inheritance autosomal dominant
gptkbp:symptom abdominal pain
neurological symptoms
psychiatric symptoms
gptkbp:treatment gptkb:hemin
glucose
gptkbp:bfsParent gptkb:acute_intermittent_porphyria
gptkbp:bfsLayer 8