Identification of four SLC19A2 mutations in four Chinese thiamine responsive megaloblastic anemia patients without diabetes

Blood Cells Mol Dis. 2014 Apr;52(4):203-4. doi: 10.1016/j.bcmd.2013.11.002. Epub 2013 Dec 16.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Anemia, Megaloblastic / diagnosis
  • Anemia, Megaloblastic / drug therapy
  • Anemia, Megaloblastic / genetics*
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Diabetes Mellitus / diagnosis
  • Diabetes Mellitus / genetics*
  • Female
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Homozygote
  • Humans
  • Ketoglutarate Dehydrogenase Complex / deficiency*
  • Ketoglutarate Dehydrogenase Complex / genetics
  • Male
  • Membrane Transport Proteins / genetics*
  • Mutation*
  • Mutation, Missense
  • Thiamine / therapeutic use
  • Thiamine Deficiency / congenital
  • Treatment Outcome

Substances

  • Membrane Transport Proteins
  • SLC19A2 protein, human
  • Ketoglutarate Dehydrogenase Complex
  • Thiamine

Supplementary concepts

  • Thiamine responsive megaloblastic anemia syndrome