Biotin-thiamine-responsive basal ganglia disease

Biotin-thiamine-responsive basal ganglia disease, or BTBGD, is a rare, treatable neurometabolic disorder inherited in an autosomal recessive manner. It mainly affects the nervous system and in particular the basal ganglia of the brain. It was first described in 1998 and was separated genetically in 2005. Without treatment it involves progressive brain damage that can lead to coma or death. People with the disease commonly have repeated episodes of subacute encephalopathy with confusion, seizures and reduced movement. It also goes by several other names, including biotin-responsive basal ganglia disease, thiamine transporter-2 deficiency and thiamine-responsive encephalopathy.