GLUT1 deficiency syndrome type 2
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
glucose transport across blood-brain barrier
|
| gptkbp:alsoKnownAs |
GLUT1DS type 2
|
| gptkbp:diagnosedBy |
genetic testing
CSF glucose measurement |
| gptkbp:firstDescribed |
2011
|
| https://www.w3.org/2000/01/rdf-schema#label |
GLUT1 deficiency syndrome type 2
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:SLC2A1_gene
|
| gptkbp:relatedTo |
gptkb:GLUT1_deficiency_syndrome_type_1
|
| gptkbp:symptom |
gptkb:paroxysmal_exertion-induced_dyskinesia
movement disorders ataxia developmental delay dystonia |
| gptkbp:treatment |
gptkb:ketogenic_diet
|
| gptkbp:bfsParent |
gptkb:SLC2A1_gene
|
| gptkbp:bfsLayer |
8
|