label: Biotin-Thiamine-Responsive Basal Ganglia Disease
label_lc: biotin-thiamine-responsive basal ganglia disease
description: An autosomal recessive condition caused by mutation(s) in the SLC19A3 gene, encoding thiamine transporter 2. It is characterized by episodic encephalopathy, which may present with a variety of clinical features, and is responsive to high doses of biotin and/or thiamine.