IEMbase 0523: SLC25A12-related mitochondrial aspartate-glutamate carrier deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 523 |
| Nosology | 17.9.01.01 |
| Gene | SLC25A12 |
| External IDs | OMIM:612949; ORPHA:353217 |
| Generated mapping | UNMAPPED; best candidate CACNA1A_Related_Disorder.yaml#Developmental and Epileptic Encephalopathy Type 42 |
| Candidate DisMech targets | No exact local target found |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as SLC25A12-related mitochondrial aspartate-glutamate carrier isoform 1 deficiency, with alternate labels early infantile epileptic encephalopathy type 39, Aralar deficiency, and EIEE39.
The treatment row lists ketogenic diet. Biochemical rows include very high muscle respiratory-chain activity, very low muscle ATP production, very low CNS N-acetyl-aspartic acid, and very high plasma lactate. Clinical rows include apnea, cerebral hypomyelination, decreased cerebrum volume, global hypomyelination, axial hypotonia, spasticity, increased tendon reflexes, psychomotor retardation, and sporadic tonic seizures.
DisMech phenotype coverage
No exact local SLC25A12/Aralar deficiency target was found. The generated
candidate CACNA1A_Related_Disorder.yaml#Developmental and Epileptic
Encephalopathy Type 42 is not valid. CACNA1A-DEE42 is a P/Q-type calcium
channel epileptic encephalopathy; it shares early seizures, hypotonia, and
developmental impairment, but not mitochondrial aspartate-glutamate carrier
biology, lactate/N-acetyl-aspartate/ATP biomarkers, or SLC25A12.
Concordance and completeness
Judgement: true local disease gap.
The IEMbase profile is a mitochondrial carrier deficiency with biochemical energy-metabolism and CNS metabolite markers, not a CACNA1A channelopathy. The local CACNA1A entry is useful as epileptic-encephalopathy differential context only.
Curation actions
- Track SLC25A12/Aralar deficiency / EIEE39 as a local mitochondrial carrier gap.
- Reject CACNA1A-DEE42 as an exact mapping.
- Preserve ketogenic diet, lactate, ATP production, N-acetyl-aspartic acid, hypomyelination, decreased cerebral volume, apnea, axial hypotonia, spasticity, increased tendon reflexes, psychomotor retardation, and tonic seizure prompts for future curation.