Component
SLC25A19 neuropathy and striatal injury phenotype
Inherited episodic encephalopathy/paralysis and progressive polyneuropathy with striatal lesions.
1 recorded relationships. Experimental role, claim status and evidence remain attached to each record.
How nutrients influence it
Every nutrient with a recorded effect on this component, credited to the nutrient that acted rather than the chapter that recorded it. Open a nutrient to see the findings and the conditions they were measured under.
Other things that act on it
Enzymes, hormones, genes, and other components with a recorded effect. These are not nutrients, so they do not count toward the arrows above. Each finding names the chapter that recorded it.
How nutrients reach it in more than one step
Chains of two or more recorded steps that end here, grouped by the nutrient they start from. Each step is a separate finding, so a chain is a route a mechanism could take, not proof that it does.
Tracing routes…
What it does
Every recorded relationship this component is part of, grouped by its role. Plain wording comes first; the technical statement follows.
What acts on it
Four SLC25A19-affected patients had episodic paralysis/encephalopathy and progressive polyneuropathy with bilateral striatal necrosis.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence-scope
- Neurological phenotype
- evidence_locator
- Abstract
- evidence_spans
- [{"source_document": "artifacts/thiamine_transport_sources/spiegel-2009-slc25a19-neuropathy-source-record.json", "source_field": "resultList.result[0].abstractText", "start_char": 0, "end_char": 774}]
- experimental_model
- Four patients aged 7-20; homozygosity mapping and clinical characterization.
- limitations
- Normal head circumference and urinary organic acids in this family do not describe every variant.
- nutrient_topic
- Thiamine research collection; topical membership is not evidence of a direct dietary effect. · Thiamine (vitamin B1)
- organism
- Homo sapiens
- plain_language
- Mitochondrial B1 transport disease can present after normal early development.
- primary_references
- [spiegel-2009-slc25a19-neuropathy] SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis (2009). https://pubmed.ncbi.nlm.nih.gov/19798730/ DOI: 10.1002/ana.21752
- tissue_or_cell_type
- Neurological phenotype
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Thiamine: mechanisms, deficiency and nutrient interactions (2026-09-17) · lines 488–500
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Four patients aged 7-20; homozygosity mapping and clinical characterization. · source_derived_draft · unverified_draft
### b1-slc25a19-neuropathy-genetics Four SLC25A19-affected patients had episodic paralysis/encephalopathy and progressive polyneuropathy with bilateral striatal necrosis. Condition category: machinery_impairment nutrient_topic: Thiamine research collection; topical membership is not evidence of a direct dietary effect. plain_language: Mitochondrial B1 transport disease can present after normal early development. organism: Homo sapiens tissue_or_cell_type: Neurological phenotype experimental_model: Four patients aged 7-20; homozygosity mapping and clinical characterization. limitations: Normal head circumference and urinary organic acids in this family do not describe every variant. evidence_spans: [{"source_document": "artifacts/thiamine_transport_sources/spiegel-2009-slc25a19-neuropathy-source-record.json", "source_field": "resultList.result[0].abstractText", "start_char": 0, "end_char": 774}] evidence_locator: Abstract evidence-scope: Neurological phenotype [spiegel-2009-slc25a19-neuropathy] SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis (2009). https://pubmed.ncbi.nlm.nih.gov/19798730/ DOI: 10.1002/ana.21752
Complete structured claim and evidence
The events it takes part in
A mechanism often involves more than two components. These are the full events, with every participant and its role.
Situations it appears in
Low-supply and faulty-machinery situations recorded in the chapters where this component plays a part.
In the sources
Preserved passages that mention this component, quoted exactly. Open one to read it in context.
Open hypotheses
Proposed ideas that involve this component. They are labeled as hypotheses and do not change any recorded statement.
This is a research prototype built from draft material. It is not medical advice, and its statements still await verification against the original studies.