TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report and review of the literature.
Thiamine-responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder with features that include megaloblastic anemia, mild thrombocytopenia and leukopenia, sensorineural deafness and diabetes mellitus. In this disease, the active thiamine uptake into cells is disturbed. Treatment with pharmacological doses of thiamine ameliorates the megaloblastic anemia and diabetes mellitus. Previous studies have demonstrated that the disease is caused by mutations in the SLC19A2 gene encoding a high-affinity thiamine transporter. We present a 5-yr-old-boy with TRMA and, because of its rarity, we review the literature.
Ozdemir
Mehmet Akif
MA
Erciyes University School of Medicine Department of Pediatrics, Kayseri, Turkey. makifo@erciyes.edu.tr
Akcakus
Mustafa
M
Kurtoglu
Selim
S
Gunes
Tamer
T
Torun
Yasemin Altuner
YA