Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder neurometabolic disorder |
| gptkbp:affects |
central nervous system
|
| gptkbp:alsoKnownAs |
gptkb:GLUT1_deficiency_syndrome
|
| gptkbp:causedBy |
mutations in SLC2A1 gene
|
| gptkbp:diagnosedBy |
genetic testing
low glucose in cerebrospinal fluid |
| gptkbp:firstDescribed |
gptkb:Darryl_C._De_Vivo
1991 |
| gptkbp:hasOrphanetID |
712
|
| https://www.w3.org/2000/01/rdf-schema#label |
De Vivo disease
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:MeSH_ID |
D054556
|
| gptkbp:OMIM |
606777
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
spasticity
movement disorders seizures ataxia developmental delay microcephaly |
| gptkbp:treatment |
gptkb:ketogenic_diet
|
| gptkbp:bfsParent |
gptkb:GLUT1_transporter
gptkb:glucose_transporter_1_(GLUT1) |
| gptkbp:bfsLayer |
7
|