IEMbase 0480: SLC2A1-related glucose transporter 1 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 480 |
| Nosology | 3.6.01.01 |
| Gene | SLC2A1 |
| External IDs | OMIM:606777; OMIM:612126; OMIM:601042; OMIM:614847; ORPHA:98811 |
| Generated mapping | UNMAPPED; best candidate SLC35A2-CDG.yaml |
| Candidate DisMech targets | GLUT1_Deficiency_Syndrome.yaml; rejected lexical candidate SLC35A2-CDG.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents SLC2A1-related glucose transporter 1 deficiency / GLUT1 deficiency as an autosomal dominant or autosomal recessive disorder. It records ketogenic diet and triheptanoin as treatments. Biochemical rows include decreased erythrocyte GLUT1 by western blot, decreased erythrocyte glucose uptake, decreased CSF glucose, decreased CSF/plasma glucose ratio, low-to-normal CSF lactate, and decreased galactonic acid, gluconic acid, and xylose-linked oligosaccharide markers. Clinical rows include neonatal seizures, ataxia, dystonia, axial muscular hypotonia, and hemolytic anemia.
DisMech phenotype coverage
GLUT1_Deficiency_Syndrome.yaml is the exact local target. The local entry
models SLC2A1 loss of function, reduced GLUT1 transporter function at the
blood-brain barrier and in erythrocytes, cerebral glucose energy deficit,
pharmacoresistant seizures, developmental delay, progressive microcephaly,
ataxia, dystonia, spasticity, hypotonia, paroxysmal exertion-induced dyskinesia,
hypoglycorrhachia, low CSF:blood glucose ratio, erythrocyte glucose uptake /
GLUT1 immunoreactivity testing, and ketogenic diet therapy.
Concordance and completeness
Judgement: false negative generated mapping; resolve to
GLUT1_Deficiency_Syndrome.yaml.
The SLC35A2-CDG.yaml candidate is not an exact match. The local GLUT1 entry has
high concordance for the core mechanism, diagnostic CSF glucose signal,
erythrocyte functional assay, movement disorder, seizures, and ketogenic diet.
IEMbase adds prompts that are not fully represented locally, especially
triheptanoin, hemolytic anemia, low/normal CSF lactate, and the additional
specialized carbohydrate/oligosaccharide marker rows.
Curation actions
- Treat this as covered by
GLUT1_Deficiency_Syndrome.yaml. - Reject
SLC35A2-CDG.yamlas a glycosylation/lexical false positive. - Consider evidence-backed enrichment for triheptanoin, hemolytic anemia, CSF lactate, and the specialized carbohydrate marker rows.