| Autor: |
L.J. Sremba, R.C. Chang, N.M. Elbalalesy, E.J. Cambray-Forker, J.E. Abdenur |
| Jazyk: |
angličtina |
| Rok vydání: |
2014 |
| Předmět: |
|
| Zdroj: |
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 368-372 (2014) |
| Druh dokumentu: |
article |
| ISSN: |
2214-4269 |
| DOI: |
10.1016/j.ymgmr.2014.07.008 |
| Popis: |
Biotin-thiamine responsive basal ganglia disease (BTBGD) is a rare metabolic condition caused by mutations in the SLC19A3 gene. BTBGD presents with encephalopathy and significant disease progression when not treated with biotin and/or thiamine. We present a patient of Mexican and European ancestry diagnosed with BTBGD found to have compound heterozygous frameshift mutations, one novel. Our report adds to the genotype-phenotype correlation, highlighting the clinical importance of considering SLC19A3 gene defects as part of the differential diagnosis for Leigh syndrome. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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