Abstract
Abstract Background: Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare autosomal recessive disorder characterized by cardinal triad features of megaloblastic anemia, sensorineural deafness and diabetes mellitus. TRMA manifestation is caused by mutations in the gene SLC19A2 encoding a high-affinity thiamine transporter, which disturbs the active thiamine uptake into cells. Case presentation: We herein report a 16-year-old Egyptian male with megaloblastic anemia, deafness and diabetes in addition he had epilepsy and hepatosplenomegaly. Diagnosis was based on clinical features and dramatic response of anemia to thiamine therapy. Thiamine in a dose of 250 mg/day resulted in rapid normalization of the hemoglobin level; which lasted for the whole 12-month follow up period; with partial improvement in glycemic control as reflected by decrease in glycosylated hemoglobin and regression of hepatosplenomegaly. Deafness and seizures showed no response to thiamin. Conclusions: TRMA syndrome should be ...
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
