Biotin-responsive basal ganglia disease
Biotin-responsive basal ganglia disease
Definition
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, biotin-responsive basal ganglia disease, biotin-thiamine-responsive basal ganglia disease, BTBGD, encephalopathy, thiamine-responsive, thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type), thiamine-responsive encephalopathy, THMD2 — per MONDO