GLUT1 deficiency syndrome type 3
GPTKB entity
Statements (14)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
glucose transport across blood-brain barrier
|
| gptkbp:causedBy |
mutation in SLC2A1 gene
|
| gptkbp:diagnosedBy |
genetic testing
low glucose in cerebrospinal fluid |
| https://www.w3.org/2000/01/rdf-schema#label |
GLUT1 deficiency syndrome type 3
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
612126
|
| gptkbp:symptom |
epilepsy
movement disorders developmental delay |
| gptkbp:treatment |
gptkb:ketogenic_diet
|
| gptkbp:bfsParent |
gptkb:SLC2A1_gene
|
| gptkbp:bfsLayer |
8
|