title: Whole exome sequencing reveals compound heterozygous mutations inSLC19A3causing biotin-thiamine responsive basal ganglia disease.
abstract: Biotin-thiamine responsive basal ganglia disease (BTBGD) is a rare metabolic condition caused by mutations in theSLC19A3gene. 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 consideringSLC19A3gene defects as part of the differential diagnosis for Leigh syndrome.
authors.affiliation: Division of Metabolic Disorders, CHOC Children's, 1201 W. La Veta Ave. Orange, CA, 92868, USA.
authors.forename: L J
authors.initials: LJ
authors.lastname: Sremba
authors.affiliation: Division of Metabolic Disorders, CHOC Children's, 1201 W. La Veta Ave. Orange, CA, 92868, USA; Department of Pediatrics, University of California, Irvine, 505 S. Main St. Orange, CA 92868, USA.
authors.forename: R C
authors.initials: RC
authors.lastname: Chang
authors.affiliation: Division of Neurology, CHOC Children's, 1201 W. La Veta Ave. Orange, CA, 92868, USA; Department of Pediatrics, University of California, Irvine, 505 S. Main St. Orange, CA 92868, USA.
authors.forename: N M
authors.initials: NM
authors.lastname: Elbalalesy
authors.affiliation: Division of Diagnostic Radiology, CHOC Children's, 1201 W. La Veta Ave. Orange, CA 92868, USA.
authors.forename: E J
authors.initials: EJ
authors.lastname: Cambray-Forker
authors.affiliation: Division of Metabolic Disorders, CHOC Children's, 1201 W. La Veta Ave. Orange, CA, 92868, USA; Department of Pediatrics, University of California, Irvine, 505 S. Main St. Orange, CA 92868, USA.
authors.forename: J E
authors.initials: JE
authors.lastname: Abdenur
keywords: BTBGD; Basal ganglia; Biotin thiamine responsive basal ganglia disease; Leigh syndrome; SLC19A3; Thiamine transporter-2