A Thiamine Responsive Megaloblastic Anemia Presented with Hypertriglyceridemia and Autoimmune Diabetes

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Yılmaz Y., Karakaş Z., Aydın B., Baş F., Ünüvar A., Karakaş Z., ...Daha Fazla

Exp Clin Endocrinol Diabetes Rep, sa.2, ss.8-10, 2015 (Hakemli Dergi)

Özet

Background: Thiamine responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder characterized by non type 1 diabetes mellitus (DM), sensorineural hearing loss and megaloblastic anemia and caused by mutations in SLC19A2 gene, encoding a thiamine transporter protein. Case: A 3-month-old male infant presented with megaloblastic anemia, DM, patent ductus arteriosus and hypertriglyceridemia. His autoimmune markers for DM were positive but with the additional finding of sensorineural deafness he was diagnosed with TRMA and thiamine therapy was started. His anemia was improved and insulin needs decreased and his genetic studies revealed a homozygous frameshift mutation, c.641del within coding region of SLC19A2 gene. Conclusion: Clinical presentation of TRMA could be highly variable and some co-existence could perplex physicians, but this diagnosis should be considered in all patients with DM and anemia and further assessment should be done.