Document Detail

A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome.
MedLine Citation:
PMID:  18614593     Owner:  NLM     Status:  MEDLINE    
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.
Ediz Yeşilkaya; Aysun Bideci; Meltem Temizkan; Zühre Kaya; Orhun Camurdan; Altuğ Koç; Davut Bozkaya; Ulker Koçak; Peyami Cinaz
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-07-09
Journal Detail:
Title:  Journal of tropical pediatrics     Volume:  55     ISSN:  1465-3664     ISO Abbreviation:  J. Trop. Pediatr.     Publication Date:  2009 Aug 
Date Detail:
Created Date:  2009-07-30     Completed Date:  2009-11-04     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8010948     Medline TA:  J Trop Pediatr     Country:  England    
Other Details:
Languages:  eng     Pagination:  265-7     Citation Subset:  IM    
Department of Pediatric Endocrinology, Gazi University Medical School, Ankara, Turkey.
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MeSH Terms
Anemia, Megaloblastic / diagnosis,  genetics*,  therapy
Child, Preschool
Diabetes Mellitus / diagnosis,  genetics*
Diagnosis, Differential
Hearing Loss, Sensorineural / diagnosis,  genetics*
Membrane Transport Proteins / genetics*
Point Mutation*
Thiamine / therapeutic use
Treatment Outcome
Vitamin B Complex / therapeutic use
Reg. No./Substance:
0/Membrane Transport Proteins; 0/SLC19A2 protein, human; 12001-76-2/Vitamin B Complex; 59-43-8/Thiamine

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