Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report


Katipoglu N., Karapinar T. H., Demir K., Koker S. A., Nalbantoglu O., Ay Y., ...More

ARCHIVOS ARGENTINOS DE PEDIATRIA, vol.115, no.3, 2017 (SCI-Expanded) identifier identifier identifier

Abstract

Background. Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound heterozygous mutations in the SLC19A2 gene.