Biotin-Thiamine-Responsive Basal Ganglia Disease

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - BTBGD - THMD2 - Thiamine Metabolism Dysfunction Syndrome-2