Biotin-thiamine-responsive basal ganglia disease

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Biotin-thiamine-responsive basal ganglia disease

Synonyms: BBGD | BTBGD | Biotin-responsive basal ganglia disease

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.