Systemic thiamine deficiency can cause disorders such as beriberi and Wernicke-Korsakoff syndrome, whereas tissue/organ-specific thiamine deficiency due to genetic inactivation of thiamine transporters can lead to thiamine metabolism dysfunction syndrome-2 (THMD2, OMIM# 607483) or thiamine-responsive megaloblastic anemia (TRMA, OMIM# 249270) (4). This evidence concerns the gene SLC19A3 and Thiamine deficiency.