A Thiamine Responsive Megaloblastic Anemia Presented with Hypertriglyceridemia and Auto-immune Diabetes

@inproceedings{Ylmaz2017ATR,
  title={A Thiamine Responsive Megaloblastic Anemia Presented with Hypertriglyceridemia and Auto-immune Diabetes},
  author={Yasin Yılmaz and Banu Kucukemre Aydin and Firdevs Baş and Ayşeg{\"u}l {\"U}n{\"u}var and Zeynep Karakan Karakaş and Ş{\"u}kran Poyrazoğlu and R{\"u}veyde Bundak and Feyza Darendeliler},
  year={2017}
}
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… CONTINUE READING

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References

Publications referenced by this paper.
SHOWING 1-10 OF 20 REFERENCES

[Galactosemia associated with Rogers syndrome in a 10-month-old infant].

  • Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
  • 2011

Hypertriglyceridemia: its etiology, effects and treatment.

  • CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne
  • 2007