title: A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome.
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.
authors.affiliation: Department of Pediatric Endocrinology, Gazi University Medical School, Ankara, Turkey. eyesilkaya@yahoo.co.uk
authors.forename: Ediz
authors.initials: E
authors.lastname: Yeşilkaya
authors.forename: Aysun
authors.initials: A
authors.lastname: Bideci
authors.forename: Meltem
authors.initials: M
authors.lastname: Temizkan
authors.forename: Zühre
authors.initials: Z
authors.lastname: Kaya
authors.forename: Orhun
authors.initials: O
authors.lastname: Camurdan
authors.forename: Altuğ
authors.initials: A
authors.lastname: Koç
authors.forename: Davut
authors.initials: D
authors.lastname: Bozkaya
authors.forename: Ulker
authors.initials: U
authors.lastname: Koçak
authors.forename: Peyami
authors.initials: P
authors.lastname: Cinaz
mesh_terms: D000749:Anemia, Megaloblastic / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D002675:Child, Preschool; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D013577:Syndrome; D013831:Thiamine / Q000627:therapeutic use; D016896:Treatment Outcome; D014421:Turkey; D014803:Vitamin B Complex / Q000627:therapeutic use
chemical_list: D026901:Membrane Transport Proteins; C120043:SLC19A2 protein, human; D014803:Vitamin B Complex; D013831:Thiamine