IEMbase 0621: TPK1-related thiamine pyrophosphokinase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 621 |
| Nosology | 21.2.03.01 |
| Gene | TPK1 |
| External IDs | OMIM:614458; ORPHA:293955 |
| Generated mapping | CANDIDATE; Biotin_Thiamine_Responsive_Basal_Ganglia_Disease.yaml |
| Candidate DisMech targets | False exact candidate; thiamine-pathway neighbor |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents TPK1-related thiamine pyrophosphokinase deficiency / THMD5 as an autosomal recessive, treatable disorder.
The biochemical rows include increased urinary 2-ketoglutaric acid in childhood/adolescence and increased lactate in CSF and plasma. Clinical rows include ataxia and dystonia. Characteristic rows include episodic encephalopathy and T2 globus pallidus hyperintensities. The treatment row is thiamine with level 4 evidence from PMID:32361878 and reported neurodevelopmental, movement, and muscle effects.
DisMech phenotype coverage
Biotin_Thiamine_Responsive_Basal_Ganglia_Disease.yaml is not an exact target.
That local file models SLC19A3-related thiamine transporter 2 deficiency, while
IEMbase 0621 is TPK1-related thiamine pyrophosphokinase deficiency. The
conditions share thiamine biology, basal-ganglia involvement, and treatment
relevance, but they have different genes and proximal mechanisms.
Concordance and completeness
Judgement: true local TPK1/THMD5 gap.
The generated candidate is useful as a neighboring thiamine-responsive basal ganglia disease but should not absorb the TPK1 entity.
Curation actions
- Do not map to SLC19A3-related biotin-thiamine-responsive basal ganglia disease.
- Curate TPK1/THMD5 as a separate thiamine-metabolism disease if selected.
- Preserve thiamine treatment, lactate, urinary 2-ketoglutarate, episodic encephalopathy, dystonia/ataxia, and globus-pallidus MRI prompts.