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 Data version May 2024

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Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

Clinical Trials

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