Whole exome sequencing reveals compound heterozygous mutations in {SLC19A3} causing biotin-thiamine responsive basal ganglia disease

摘要

Abstract 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.