Biotin-responsive basal ganglia disease

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.

Also known as: BBGD, BTBGD, THMD2, biotin-responsive basal ganglia disease, biotin-thiamine-responsive basal ganglia disease, encephalopathy, thiamine-responsive, thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type), thiamine-responsive encephalopathy

1 clinical trial for this condition and its sub-types.