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Biotin-Thiamine-Responsive Basal Ganglia Disease

Biotin-Thiamine-Responsive Basal Ganglia Disease Deep Research Fallback

⚠️ Fallback MONDO:0011841

Biotin-Thiamine-Responsive Basal Ganglia Disease Deep Research Fallback

Date: 2026-05-07

Provider Attempts

  • timeout 90s just research-disorder falcon Biotin_Thiamine_Responsive_Basal_Ganglia_Disease terminated by signal 15 before producing an artifact.
  • timeout 90s just research-disorder openai Biotin_Thiamine_Responsive_Basal_Ganglia_Disease terminated by signal 15 before producing an artifact.

Evidence Scope Integrated

The YAML curation was built from generated Orphanet structured records and cached PubMed evidence:

  • ORPHA:65284, the primary biotin-thiamine-responsive basal ganglia disease record, supplies disease scope, synonyms, definition, inheritance, onset, prevalence, SLC19A3 gene assertion, and MONDO:0011841 exact mapping.
  • ORPHA:199348, the thiamine-responsive encephalopathy record, supports the overlapping SLC19A3-related Wernicke-like thiamine-responsive phenotype.
  • PMID:27905264 supports autosomal recessive SLC19A3 disease causation, subacute encephalopathy with dysphagia/dysarthria/seizures, bilateral caudate/putamen MRI abnormalities, and outcome dependence on early treatment.
  • PMID:24372704 supports the cellular mechanism: SLC19A3 encodes thiamine transporter 2, patient tissue shows reduced thiamine transporter function, and patient fibroblasts fail to upregulate SLC19A3 under acidosis/hypoxia.
  • PMID:27896110 supports compound heterozygous SLC19A3 variants, Leigh syndrome differential diagnosis, early thiamine/biotin supplementation, and genetic counseling.
  • PMID:28677371 supports the specific SLC19A3-related CNS lesion pattern and MRI/autopsy-triggered SLC19A3 testing with prompt specific treatment.
  • PMID:35532649 supports adult presentation with seizures, ataxia, dystonia, basal ganglia MRI abnormalities, clinical/MRI improvement after thiamine and biotin, and high-dose vitamin therapy as treatment mainstay.
  • PMID:36657988 supports autosomal recessive inheritance, blood-brain barrier thiamine transport failure, recognized infantile/childhood/adult phenotypes, and early thiamine/biotin supplementation.

No uncached web claims or hand-authored reference-cache content were used.