Biotin-Thiamine-Responsive Basal Ganglia Disease

Biotin-Thiamine-Responsive Basal Ganglia Disease

Biotin-thiamine-responsive basal ganglia disease is a rare, genetic disorder causing encephalopathy due to mutations in the SLC19A3 gene. It presents with epilepsy, dystonia, and confusion. Patients usually respond well to supplements of biotin and thiamine. Early diagnosis and treatment are important for preventing permanent neurological damage.