SLC19A3 and hyperinsulinemic hypoglycemia, familial, 4: One of these diseases is thiamine transporter-2 deficiency (ThTR2, OMIM#607483), a recessive inherited defect due to mutations in the SLC19A3 gene that cause acute and recurrent episodes of encephalopathy with dystonia, seizures and brain injury that respond extremely well to the early administration of thiamine and biotin [6-20].