Exp Clin Endocrinol Diabetes Rep, no.2, pp.8-10, 2015 (Peer-Reviewed Journal)
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.