has material basis in germline mutation in disease responds to SLC19A3 biotin thiamine-responsive dysfunction syndrome basal ganglia disorder toxic encephalopathy biotin-responsive basal ganglia disease https://github.com/monarch-initiative/mondo/issues/4205 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/9437 https://www.malacards.org/card/basal_ganglia_disease_biotin_thiamine_responsive Any thiamine-responsive dysfunction syndrome in which the cause of the disease is a variation in the SLC19A3 gene, characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness. Orphanet:199348 Imaging may reveal bilateral lesions in the basal ganglia. The disease usually becomes symptomatic in childhood and is life-threatening if left untreated, but symptoms can be reversed and progression prevented by treatment with high doses of biotin and thiamine. SCTID:703522009 thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type) DOID:0050659 Orphanet:65284 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) biotin-responsive basal ganglia disease BBGD THMD2 ICD9:333.99 MEDGEN:375289 OMIM:607483 encephalopathy, thiamine-responsive UMLS:C1843807 GARD:0010237 SCTID:723557004 MONDO:0011841 icd11.foundation:1776831202 BTBGD MESH:C537658 thiamine-responsive encephalopathy biotin-thiamine-responsive basal ganglia disease monogenic epilepsy hereditary neurological disease