GLUT1 deficiency syndrome type 1
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
neurometabolic disorder |
| gptkbp:affects |
glucose transport across blood-brain barrier
|
| gptkbp:alsoKnownAs |
gptkb:De_Vivo_disease
|
| gptkbp:causedBy |
mutations in SLC2A1 gene
|
| gptkbp:diagnosedBy |
genetic testing
CSF glucose measurement |
| gptkbp:firstDescribed |
1991
|
| https://www.w3.org/2000/01/rdf-schema#label |
GLUT1 deficiency syndrome type 1
|
| gptkbp:ICD-10_code |
E74.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:namedAfter |
gptkb:GLUT1_protein
|
| gptkbp:OMIM |
606777
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
spasticity
movement disorders seizures ataxia developmental delay microcephaly |
| gptkbp:treatment |
gptkb:ketogenic_diet
|
| gptkbp:bfsParent |
gptkb:SLC2A1_gene
|
| gptkbp:bfsLayer |
8
|