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Journal of Tropical Pediatrics Advance Access published online on July 9, 2008
Journal of Tropical Pediatrics, doi:10.1093/tropej/fmn060
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© The Author [2008]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Case Report

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

Ediz Yesilkayaa, Aysun Bidecia, Meltem Temizkana, Zühre Kayab, Orhun Çamurdana, Altug Koçc, Davut Bozkayaa, Ülker Koçakb and Peyami Cinaza

aDepartment of Pediatric Endocrinology, bPediatric Hematology, and cMedical Genetics, Gazi University Medical School, Ankara, Turkey

Correspondence: Ediz Yesilkaya, Gazi Üniversitesi Tip Fakültesi, Pediatrik Endokrinoloji Bilim Dali, Ankara, Turkey. Tel.: +90 312 2026046; Fax: +90 312 2133643; E-mail <eyesilkaya{at}yahoo.co.uk>.


  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.

Key Words: thiamine-responsive megaloblastic anemia • novel mutation • diabetes mellitus


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