Ontology highlight
ABSTRACT:
SUBMITTER: Sremba LJ
PROVIDER: S-EPMC5121344 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Sremba L J LJ Chang R C RC Elbalalesy N M NM Cambray-Forker E J EJ Abdenur J E JE
Molecular genetics and metabolism reports 20140828
Biotin-thiamine responsive basal ganglia disease (BTBGD) is a rare metabolic condition caused by mutations in the <i>SLC19A3</i> 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 consideri ...[more]