Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome

@article{Diaz1999MutationsIA,
  title={Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome},
  author={George A Diaz and Maryam Banikazemi and Kimihiko Oishi and Robert J Desnick and Bruce D Gelb},
  journal={Nature Genetics},
  year={1999},
  volume={22},
  pages={309-312}
}
Thiamine-responsive megaloblastic anaemia syndrome (TRMA; MIM 249270) is an autosomal recessive disorder with features that include megaloblastic anaemia, mild thrombocytopenia and leucopenia, sensorineural deafness and diabetes mellitus. Treatment with pharmacologic doses of thiamine ameliorates the megaloblastic anaemia and diabetes mellitus. A defect in the plasma membrane transport of thiamine has been demonstrated in erythrocytes and cultured skin fibroblasts from TRMA patients. The gene… CONTINUE READING

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