A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome.
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.
Yeşilkaya
Ediz
E
Department of Pediatric Endocrinology, Gazi University Medical School, Ankara, Turkey. eyesilkaya@yahoo.co.uk
Bideci
Aysun
A
Temizkan
Meltem
M
Kaya
Zühre
Z
Camurdan
Orhun
O
Koç
Altuğ
A
Bozkaya
Davut
D
Koçak
Ulker
U
Cinaz
Peyami
P
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
D026901:Membrane Transport Proteins; C120043:SLC19A2 protein, human; D014803:Vitamin B Complex; D013831:Thiamine