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Biotin-thiamin-responsive basal ganglia disease Biotin-thiamin-responsive basal ganglia disease (also called biotin-responsive basal ganglia disease, thiamin transporter-2 deficiency, and thiamin metabolism dysfunction syndrome-2) is caused by an autosomal recessive mutation in the SLC19A3 gene that codes for THTR-2

Ion source conditions were set as follows: spray voltage = 4 kV, sheath gas = 20 (arbitrary unit), auxiliary gas = 4 (arbitrary unit), sweep gas = 0 (arbitrary units), transfer tube temperature = 300C, RF-lens level = 50%

92 Sun et al

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