IEMbase 0392: SLC19A3-related Thiamine transporter 2 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 392 |
| Nosology | 21.2.02.01 |
| Gene | SLC19A3 |
| External IDs | OMIM:606152; ORPHA:65284 |
| Generated mapping | MAPPED; Biotin_Thiamine_Responsive_Basal_Ganglia_Disease.yaml |
| Candidate DisMech targets | Biotin_Thiamine_Responsive_Basal_Ganglia_Disease.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive SLC19A3-related thiamine transporter 2 deficiency, with alternate names Wernicke-like encephalopathy and BRBG, biotin and thiamine basal ganglia disease, and SLC19A3.
Characteristic clinical rows include basal ganglia MRI lesions, acute encephalopathic crisis, and focal epilepsy. Additional rows include dystonia and intractable epilepsy. Biochemical rows include normal-to-increased lactate, CSF lactate, alanine, urinary 2-ketoglutaric acid, pyruvate, hemoglobin, and plasma vitamin B1/thiamine. Treatment rows list thiamine and biotin.
DisMech phenotype coverage
The generated mapping to
Biotin_Thiamine_Responsive_Basal_Ganglia_Disease.yaml is correct. Local
DisMech models biallelic SLC19A3 variants, impaired thiamine transporter 2
function, stress-triggered cerebral thiamine-transport failure, subacute
encephalopathy, seizures, movement disorder/dystonia, bilateral basal ganglia
MRI lesions, elevated lactate in decompensation, and early high-dose thiamine
plus biotin therapy.
Local coverage is stronger for mechanism, treatment timing, basal-ganglia pathophysiology, and disease scope. IEMbase is more granular for selected laboratory rows and seizure subtype labels.
Concordance and completeness
Judgement: correct mapping with high concordance.
The resources agree on SLC19A3, autosomal recessive inheritance, thiamine transporter 2 deficiency, basal ganglia lesions, acute encephalopathy, dystonia or movement disorder, seizures, lactate abnormalities, and thiamine/biotin treatment.
Curation actions
- Keep the generated mapping to
Biotin_Thiamine_Responsive_Basal_Ganglia_Disease.yaml. - Consider adding IEMbase's focal epilepsy, intractable epilepsy, urinary 2-ketoglutaric acid, CSF lactate, alanine, plasma thiamine, and normal pyruvate/hemoglobin review prompts after source verification.
- Do not conflate this SLC19A3 record with the earlier SLC19A2 thiamine transporter 1 disease gap.