A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome

Abstract

Reported here is a 2-year-old girl who was diagnosed to have thiamine-responsive megaloblastic anemia during evaluations for her bilateral neurosensorial deafness. Besides reporting a new mutation on the gene SLC19A2 for the first time in the literature, we highlight the recognition of this syndrome - when megaloblastic anemia and diabetes mellitus coexists - and the role of thiamine replacement for the treatment of both disorders. © The Author [2008]. Published by Oxford University Press. All rights reserved.