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Biotin-thiamine-responsive basal ganglia disease

Disease definition

A rare genetic neurological disorder characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness. Imaging may reveal bilateral lesions in the basal ganglia. The disease usually becomes symptomatic in childhood and is life-threatening if left untreated, but symptoms can be reversed and progression prevented by treatment with high doses of biotin and thiamine.


Classification level: Disorder
  • Synonym(s):
    • BBGD
    • BTBGD
    • Biotin-responsive basal ganglia disease
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: G93.8
  • OMIM: 607483
  • UMLS: C1843807
  • MeSH: C537658
  • GARD: 10237
  • MedDRA: -

Detailed information


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