A Novel Mutation in the SLC19A2 Gene in a Turkish Female with Thiamine-responsive Megaloblastic Anemia Syndrome

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Yesilkaya E., Bideci A., Temizkan M., Kaya Z., Camurdan O., Koc A., ...More

JOURNAL OF TROPICAL PEDIATRICS, vol.55, no.4, pp.265-267, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 55 Issue: 4
  • Publication Date: 2009
  • Doi Number: 10.1093/tropej/fmn060
  • Journal Name: JOURNAL OF TROPICAL PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.265-267
  • Keywords: thiamine-responsive megaloblastic anemia, novel mutation, diabetes mellitus, TERM-FOLLOW-UP
  • Gazi University Affiliated: Yes

Abstract

Reported here is a 2-year-old girl who was diagnosed to have thiamine-responsive megaloblastic anemia during evaluations for her bilateral neurosensorial deafness. Besides reporting a new mutation on the gene SLC19A2 for the first time in the literature, we highlight the recognition of this syndrome-when megaloblastic anemia and diabetes mellitus coexists-and the role of thiamine replacement for the treatment of both disorders.