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., ...Daha Fazla

JOURNAL OF TROPICAL PEDIATRICS, cilt.55, sa.4, ss.265-267, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 55 Sayı: 4
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1093/tropej/fmn060
  • Dergi Adı: JOURNAL OF TROPICAL PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.265-267
  • Anahtar Kelimeler: thiamine-responsive megaloblastic anemia, novel mutation, diabetes mellitus, TERM-FOLLOW-UP
  • Gazi Üniversitesi Adresli: Evet

Özet

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.