Definition:

Biotin-responsive basal ganglia disease (BBGD) is a rare autosomal recessive disorder. The disease has its onset in childhood, and is characterized by episodic encephalopathy presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. BBGD symptoms disappear within a few days with the administration of high doses of biotin (5-10 mg/kg/d). It has been reported that BBGD is due to mutations in the transporter gene SLC19A3.