Thiamine-responsive megaloblastic anemia syndrome (TRMA), a rare autosomal recessive disorder, is characterized by major clinical findings (megaloblastic anemia, diabetes mellitus, sensorineural deafness). Due to a lack of thiamine in patients with TRMA, structural heart defects and rhythm abnormalities may be present. In this report, we present a patient with TRMA who was followed for 11 years in pediatric endocrinology. As the patient failed to take thiamine preparations over the previous month, diabetic ketoacidosis developed as well as supraventricular tachycardia.

Keywords: supraventriküler taşikardi, tiamin.