thiamine-responsive megaloblastic anemia syndrome (Rodgers syndrome)

Genetics

• autosomal recessive
• defect in thiamine transporter 1 (SLC19A2)

Clinical manifestations

• megaloblastic anemia
• diabetes mellitus
• sensorineural deafness

Laboratory

• complete blood count
  • anemia
  • macrocytosis
  • mild thrombocytopenia
  • mild leukopenia
• serum glucose: hyperglycemia

More general terms

• megaloblastic anemia
• inborn error of metabolism

Additional terms

• thiamine (vitamin B1) deficiency

Database

• OMIM: https://mirror.omim.org/entry/249270