Thiamine responsive megaloblastic anemia syndrome

Thiamine responsive megaloblastic anemia syndrome
SpecialtyMedical genetics
ComplicationsDiabetes mellitus, anemia, hearing loss
CausesSLC19A2 gene mutation
TreatmentThiamine

Thiamine responsive megaloblastic anemia syndrome (also known as Rogers syndrome) is a very rare autosomal recessive genetic disorder affecting a thiamine transporter, which is characterized by megaloblastic anemia, diabetes mellitus, and hearing loss. The condition is treated with high doses of thiamine (vitamin B1).

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