IEMbase 0524: SLC25A22-related mitochondrial glutamate transporter deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 524 |
| Nosology | 17.9.01.02 |
| Gene | SLC25A22 |
| External IDs | OMIM:609304; ORPHA:293181 |
| Generated mapping | UNMAPPED; best candidate Undetermined_Early_Onset_Epileptic_Encephalopathy.yaml#DEE13 |
| Candidate DisMech targets | No exact local target found |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as SLC25A22-related mitochondrial glutamate transporter deficiency, with alternate labels early infantile epileptic encephalopathy 3 and EIEE3. No treatments are listed.
The biochemical row is very low fibroblast glutamate oxidation. Clinical and clinical-characteristic rows include microcephaly, psychomotor retardation, spasticity, vegetative state, abnormal electroretinogram, abnormal CNS MRI, cerebral atrophy on MRI, abnormal EEG, progressive encephalopathy, hypotonia, and myoclonic epilepsy.
DisMech phenotype coverage
No exact local SLC25A22 mitochondrial glutamate transporter target was found.
The generated candidate Undetermined_Early_Onset_Epileptic_Encephalopathy.yaml
is an umbrella entry for heterogeneous neonatal-to-infantile epileptic
encephalopathies before a specific gene-defined subtype is assigned. It includes
DEE13 as a MONDO child subtype, but it does not model SLC25A22 transporter
biology, fibroblast glutamate oxidation, or EIEE3 as a gene-specific
mitochondrial disease.
Concordance and completeness
Judgement: true local disease gap, with only broad EOEE context locally.
The local EOEE file can provide syndrome-level context for early seizures and developmental encephalopathy, but it should not be treated as a completed mapping for this SLC25A22 record.
Curation actions
- Track SLC25A22 mitochondrial glutamate transporter deficiency / EIEE3 as a local mitochondrial carrier and epileptic-encephalopathy gap.
- Do not use the undetermined EOEE umbrella as an exact disease target.
- Preserve fibroblast glutamate oxidation, myoclonic epilepsy, EEG/MRI abnormalities, cerebral atrophy, progressive encephalopathy, microcephaly, hypotonia, spasticity, psychomotor retardation, and vegetative-state prompts.