Egor B. Prokhortchouk

Sodium-dependent multivitamin transporter deficiency caused by novel SLC5A6 mutations: a clinical case and personalized mice model study

The SLC5A6 gene encodes the sodium-dependent multivitamin transporter (SMVT), which transports biotin, pantothenate, and lipoic acid. Mutations of the SLC5A6 gene result in a hereditary syndrome whose symptoms range from early-onset, life-threatening systemic disorder to relatively mild, late-onset motor neuropat...