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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.
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. Alfadhel M, et al. Orphanet J Rare Dis. 2013 Jun 6;8:83. doi: 10.1186/1750-1172-8-83. Orphanet J Rare Dis. 2013. PMID: 23742248 Free PMC article. Review.
BACKGROUND: Biotin-responsive basal ganglia disease (BBGD) is an autosomal recessive neurometabolic disorder. ...
BACKGROUND: Biotin-responsive basal ganglia disease (BBGD) is an autosomal recessive neurometabolic disor …
Biotin-responsive basal ganglia disease: case report and review of the literature.
El-Hajj TI, Karam PE, Mikati MA. El-Hajj TI, et al. Neuropediatrics. 2008 Oct;39(5):268-71. doi: 10.1055/s-0028-1128152. Epub 2009 Mar 17. Neuropediatrics. 2008. PMID: 19294600 Review.
Biotin-responsive basal ganglia disease is a rare entity of which 10 cases have been reported in the literature. We report a case of biotin-responsive basal ganglia disease with similarities and differences com …
Biotin-responsive basal ganglia disease is a rare entity of which 10 cases have been reported in the lite …
SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review.
Alfadhel M, Tabarki B. Alfadhel M, et al. Neuropediatrics. 2018 Apr;49(2):83-92. doi: 10.1055/s-0037-1607191. Epub 2017 Sep 29. Neuropediatrics. 2018. PMID: 28962040 Review.
Thiamine metabolism dysfunction syndrome type 2 is also known by other terms including: "SCL19A3 gene defect," "biotin-responsive basal ganglia disease" (BBGD), and "biotin-thiamine-responsive basal ganglia disease" (BTBGD). ...
Thiamine metabolism dysfunction syndrome type 2 is also known by other terms including: "SCL19A3 gene defect," "biotin-responsive …
Defects of thiamine transport and metabolism.
Brown G. Brown G. J Inherit Metab Dis. 2014 Jul;37(4):577-85. doi: 10.1007/s10545-014-9712-9. Epub 2014 May 1. J Inherit Metab Dis. 2014. PMID: 24789339 Review.
Thiamine is transported into cells by two carriers, THTR1 and THTR2, and deficiency of these results in thiamine-responsive megaloblastic anaemia and biotin-responsive basal ganglia disease respectively. Defective synthesis of thiamine pyrophosp …
Thiamine is transported into cells by two carriers, THTR1 and THTR2, and deficiency of these results in thiamine-responsive megaloblastic an …
Folate and thiamine transporters mediated by facilitative carriers (SLC19A1-3 and SLC46A1) and folate receptors.
Zhao R, Goldman ID. Zhao R, et al. Mol Aspects Med. 2013 Apr-Jun;34(2-3):373-85. doi: 10.1016/j.mam.2012.07.006. Mol Aspects Med. 2013. PMID: 23506878 Free PMC article. Review.
There are autosomal recessive disorders associated with mutations in genes encoded for SLC46A1 (hereditary folate malabsorption), FOLR1 (cerebral folate deficiency), SLC19A2 (thiamine-responsive megaloblastic anemia), and SLC19A3 (biotin-responsive basal g …
There are autosomal recessive disorders associated with mutations in genes encoded for SLC46A1 (hereditary folate malabsorption), FOLR1 (cer …