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Yang, C. Biotin-Thiamine-Responsive Basal Ganglia Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/4981 (accessed on 27 September 2026).
Yang C. Biotin-Thiamine-Responsive Basal Ganglia Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/4981. Accessed September 27, 2026.
Yang, Catherine. "Biotin-Thiamine-Responsive Basal Ganglia Disease" Encyclopedia, https://encyclopedia.pub/entry/4981 (accessed September 27, 2026).
Yang, C. (2020, December 24). Biotin-Thiamine-Responsive Basal Ganglia Disease. In Encyclopedia. https://encyclopedia.pub/entry/4981
Yang, Catherine. "Biotin-Thiamine-Responsive Basal Ganglia Disease." Encyclopedia. Web. 24 December, 2020.
Biotin-Thiamine-Responsive Basal Ganglia Disease
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/biotin-thiamine-responsive-basal-ganglia-disease

Biotin-thiamine-responsive basal ganglia disease is a disorder that affects the nervous system, including a group of structures in the brain called the basal ganglia, which help control movement. As its name suggests, the condition may improve if the vitamins biotin and thiamine are given as treatment. Without early and lifelong vitamin treatment, people with biotin-thiamine-responsive basal ganglia disease experience a variety of neurological problems that gradually get worse. The occurrence of specific neurological problems and their severity vary even among affected individuals within the same family.

genetic conditions

References

  1. Alfadhel M, Almuntashri M, Jadah RH, Bashiri FA, Al Rifai MT, Al Shalaan H, AlBalwi M, Al Rumayan A, Eyaid W, Al-Twaijri W. Biotin-responsive basal gangliadisease should be renamed biotin-thiamine-responsive basal ganglia disease: aretrospective review of the clinical, radiological and molecular findings of 18new cases. Orphanet J Rare Dis. 2013 Jun 6;8:83. doi: 10.1186/1750-1172-8-83.Review.
  2. Debs R, Depienne C, Rastetter A, Bellanger A, Degos B, Galanaud D, Keren B,Lyon-Caen O, Brice A, Sedel F. Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. Arch Neurol. 2010 Jan;67(1):126-30. doi: 10.1001/archneurol.2009.293.
  3. El-Hajj TI, Karam PE, Mikati MA. Biotin-responsive basal ganglia disease: casereport and review of the literature. Neuropediatrics. 2008 Oct;39(5):268-71. doi:10.1055/s-0028-1128152.
  4. Tabarki B, Al-Hashem A, Alfadhel M. Biotin-Thiamine-Responsive Basal GangliaDisease. 2013 Nov 21 [updated 2020 Aug 20]. In: Adam MP, Ardinger HH, Pagon RA,Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet].Seattle (WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK169615/
  5. Tabarki B, Al-Shafi S, Al-Shahwan S, Azmat Z, Al-Hashem A, Al-Adwani N, Biary N, Al-Zawahmah M, Khan S, Zuccoli G. Biotin-responsive basal ganglia diseaserevisited: clinical, radiologic, and genetic findings. Neurology. 2013 Jan15;80(3):261-7. doi: 10.1212/WNL.0b013e31827deb4c.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
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Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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