Symbol
| SLC2A1
|
Location
| 1p34.2
|
Name
|
glucose transporter type 1 deficiency syndrome |
Other name(s)
|
GLUT1 deficiency syndrome |
Corresponding gene
|
SLC2A1
|
Other symbol(s)
| GLUT1DS
|
Main clinical features
|
infantile seizures, microcephaly, developmental delay and hypoglycorrhachia, caused by haploinsufficiency of the blood-brain barrier hexose carrier, efficiently treated by ketogenic diet
brain energy failure and epileptic encephalopathy |
Genetic determination
| autosomal dominant |
Function/system disorder
| metabolism/carbohydrates |
| mental retardation |
Type
| disease
|
Name
| glucose transport member 1 (SLC2A1), wide spectrum of mutation
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
nonsense
|  
| truncated protein
|  
| missense
|  
| abnormal protein/loss of function
| mutants have significantly diminished membrane association and glucose transport acti
|  
| deletion
|  
| microdeletions ranged in size from 45Kb to 4.51Mb in patients with severe epilepsy, significant cognitive and motor delay, ataxia, and microcephaly (PMID: 20382060)
| |
Remark(s)
|
93% of patients with Glut-1 DS have identifiable mutations in SLC2A1 |