RESUMO
Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an early-onset autosomal recessive disorder characterized by megaloblastic anemia with ringed sideroblasts, diabetes mellitus and progressive sensorineural deafness, all of which respond in varying degrees to the administration of thiamine, in pharmacologic doses. TRMA syndrome has been reported in less than 30 families, but has never been reported in Korea. It has been demonstrated recently that TRMA is consistently associated with a defect in thiamine transport across cellular membranes and with impaired intracellular pyrophosphorylation. The TRMA syndrome gene, SCL19A2, locates on chromosome 1q23.2-23.3, and encodes a high-affinity thiamine transporter protein. We recently experienced 6 cases of thiamine-responsive megaloblastic anemia syndrome in a family, including a mother and five daughters. All the six cases revealed megaloblastic anemia refractory to vitamin B12 and folic acid therapy but responded to thiamine. We report the cases with a brief review of the literature.