Biotin-Responsive Basal Ganglia Disease in Ethnic Europeans With Novel SLC19A3 Mutations
Open Access
- 1 January 2010
- journal article
- case report
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 67 (1), 126-130
- https://doi.org/10.1001/archneurol.2009.293
Abstract
Objective To report the first 2 European cases of biotin-responsive basal ganglia disease and novelSLC19A3mutations. Design Case reports. Setting University hospital. Patients A 33-year-old man and his 29-year-old sister, both of Portuguese ancestry, presented with recurrent episodes of encephalopathy. Between episodes patients exhibited generalized dystonia, epilepsy, and bilateral hyperintensities of the caudate and putamen. Main Outcome Measures Clinical and radiologic findings. Results Administration of high doses of biotin or of a combination of biotin and thiamine during encephalopathies resulted in spectacular clinical and radiologic improvement in both patients. Sequencing of theSLC19A3disclosed 2 novel mutations, both of which created premature stop codons in the protein sequence of hTHTR2. Conclusion This study demonstrates that biotin-responsive basal ganglia disease is a panethnic condition. A therapeutic trial with high doses of biotin and thiamine seems mandatory in every unexplained encephalopathy with bilateral lesions of putamen and caudate nuclei.Keywords
This publication has 5 references indexed in Scilit:
- Biotin-Responsive Basal Ganglia Disease: Case Report and Review of the LiteratureNeuropediatrics, 2008
- Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2American Journal of Physiology-Cell Physiology, 2006
- Biological functions of biotinylated histonesThe Journal of Nutritional Biochemistry, 2005
- Biotin Deficiency Reduces Expression of SLC19A3, a Potential Biotin Transporter, in Leukocytes from Human Blood,Journal of Nutrition, 2005
- SLC19A3 encodes a second thiamine transporter ThTr2Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2001