Thiamine-responsive megaloblastic anemia syndrome
Thiamine-responsive megaloblastic anemia syndrome
Definition
Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.
Also known as Rogers syndrome, thiamine metabolism dysfunction syndrome 1, thiamine-responsive anemia syndrome, thiamine-responsive megaloblastic anemia syndrome, thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness, thiamine-responsive myelodysplasia, THMD1, TRMA — per MONDO