Basal Ganglia Disease, Biotin-Responsive

Common Name(s)

Basal Ganglia Disease, Biotin-Responsive

Thiamine metabolism dysfunction syndrome-2 (THMD2) is an autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. Administration of high doses of biotin, and sometimes thiamine, during these crises results in partial or complete improvement within days. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. It is not known why biotin administration results in clinical improvement, as the molecular basis of the disorder is mutation in a gene encoding a thiamine transporter. However, biotin may increase the gene expression of SLC19A3 (summary by {1:Debs et al., 2010}). For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 ({249270}).
 

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Following organizations serve the condition "Basal Ganglia Disease, Biotin-Responsive" for support, advocacy or research.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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