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Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal

L J Sremba¹, R C Chang², N M Elbalalesy³

¹Division of Metabolic Disorders, CHOC Children's, 1201 W. La Veta Ave. Orange, CA, 92868, USA.

Molecular Genetics and Metabolism Reports

|November 30, 2016

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.

Keywords:

BTBGD Basal ganglia Biotin thiamine responsive basal ganglia disease Leigh syndrome SLC19A3 Thiamine transporter-2

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