A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome

J Trop Pediatr. 2009 Aug;55(4):265-7. doi: 10.1093/tropej/fmn060. Epub 2008 Jul 9.

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.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Megaloblastic / diagnosis
  • Anemia, Megaloblastic / genetics*
  • Anemia, Megaloblastic / therapy
  • Child, Preschool
  • Diabetes Mellitus / diagnosis
  • Diabetes Mellitus / genetics*
  • Diagnosis, Differential
  • Female
  • Genotype
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Membrane Transport Proteins / genetics*
  • Pedigree
  • Point Mutation*
  • Syndrome
  • Thiamine / therapeutic use
  • Treatment Outcome
  • Turkey
  • Vitamin B Complex / therapeutic use

Substances

  • Membrane Transport Proteins
  • SLC19A2 protein, human
  • Vitamin B Complex
  • Thiamine