Health Conditions Related to Genetic Changes
Biotin-thiamine-responsive basal ganglia disease
At least seven mutations in the SLC19A3 gene have been identified in people with biotin-thiamine-responsive basal ganglia disease, a disorder that involves recurrent episodes of brain dysfunction (encephalopathy) and a variety of neurological problems that gradually get worse. SLC19A3 gene mutations likely result in a protein with impaired ability to transport thiamine into cells, resulting in decreased absorption of the vitamin and leading to neurological dysfunction. Using medical imaging, abnormalities can be seen in several parts of the brain, including a group of structures called the basal ganglia, which help control movement, but the relationship between these specific brain abnormalities and the abnormal thiamine transporter is unknown.
More About This Health ConditionLeigh syndrome
MedlinePlus Genetics provides information about Leigh syndrome
More About This Health ConditionOther disorders
SLC19A3 gene mutations have also been identified in individuals with other neurological disorders whose signs and symptoms overlap those of biotin-thiamine-responsive basal ganglia disease (described above). These include a disorder called early infantile lethal encephalopathy and another disorder that begins in early infancy and causes seizures and brain deterioration (atrophy). A small number of individuals with signs and symptoms similar to those of the neurological disorders Leigh syndrome and Wernicke encephalopathy have also been found to have SLC19A3 gene mutations. It is unclear why mutations in this gene cause varying signs and symptoms in different individuals.
Other Names for This Gene
- BBGD
- S19A3_HUMAN
- solute carrier family 19 (thiamine transporter), member 3
- solute carrier family 19, member 3
- thiamine transporter 2
- THMD2
- thTr-2
- THTR2
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- 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. 2013 Jun 6;8:83. doi: 10.1186/1750-1172-8-83. Citation on PubMed or Free article on PubMed Central
- 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. Citation on PubMed
- El-Hajj TI, Karam PE, Mikati MA. Biotin-responsive basal ganglia disease: case report and review of the literature. Neuropediatrics. 2008 Oct;39(5):268-71. doi: 10.1055/s-0028-1128152. Epub 2009 Mar 17. Citation on PubMed
- Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H. Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. Brain. 2013 Mar;136(Pt 3):882-90. doi: 10.1093/brain/awt013. Epub 2013 Feb 18. Citation on PubMed
- Kevelam SH, Bugiani M, Salomons GS, Feigenbaum A, Blaser S, Prasad C, Haberle J, Baric I, Bakker IM, Postma NL, Kanhai WA, Wolf NI, Abbink TE, Waisfisz Q, Heutink P, van der Knaap MS. Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain. 2013 May;136(Pt 5):1534-43. doi: 10.1093/brain/awt054. Epub 2013 Mar 12. Citation on PubMed
- 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 disease revisited: clinical, radiologic, and genetic findings. Neurology. 2013 Jan 15;80(3):261-7. doi: 10.1212/WNL.0b013e31827deb4c. Epub 2012 Dec 26. Citation on PubMed
The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.