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Diseases

Genetic and Rare Diseases Information Center (GARD)

Biotin-thiamine-responsive basal ganglia disease


Other Names for this Disease
  • Biotin-responsive basal ganglia disease
  • BBGD
  • BTBGD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Biotin-thiamine-responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Without early diagnosis and treatment, most affected people develop features of the condition between ages 3 and 10 years. Signs and symptoms may include recurrent episodes of confusion, seizures, ataxia (problems coordinating movements), dystonia, facial palsy (weakness of the facial muscles), external ophthalmoplegia (paralysis of the muscles surrounding the eye), and dysphagia. Eventually, these episodes can lead to coma or even death. Biotin-thiamine-responsive basal ganglia disease is caused by changes (mutations) in the SLC19A3 gene and is inherited in an autosomal recessive manner.[1][2] As its name suggests, early and lifelong treatment with the vitamins biotin and thiamine may improve the symptoms.[2][3]
Last updated: 1/15/2016

References

  1. Biotin-thiamine-responsive basal ganglia disease. Genetics Home Reference. January 2014; http://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disease.
  2. Brahim Tabarki, MD, Amal Al-Hashem, MD, and Majid Alfadhel, MD, MHSc, FCCMG. Biotin-Thiamine-Responsive Basal Ganglia Disease. GeneReviews. November 2013; http://www.ncbi.nlm.nih.gov/books/NBK169615/#bgd-biotin.Clinical_Description.
  3. Alfadhel M, Almuntashri M, Jadah RH, Bashiri FA, Al Rifai MT, Al Shalaan H, Al Balwi M, Al Rumayan A, Eyaid W, Al-Twaijri W. Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. Orphanet J Rare Dis. June 2013; 8:83.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Biotin-thiamine-responsive basal ganglia disease. This website is maintained by the National Library of Medicine.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Biotin-thiamine-responsive basal ganglia disease. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Biotin-responsive basal ganglia disease
  • BBGD
  • BTBGD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.