BTBGD is inherited in an autosomal recessive fashion and caused by pathogenic biallelic sequence variants in the SLC19A3 gene (MIM 606152).1 The SLC19A3 gene [solute carrier family 19 (thiamine transporter), member 3] encodes the THTR2 (thiamine transporter 2), which helps to absorb vitamins from the intestines, its reclamation from renal tubules, and play a key role in its uptake into the cells.2 The gene discussed is SLC19A3; the disease is biotin-responsive basal ganglia disease.