Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2

Psychiatry Clin Neurosci. 2014 Jun;68(6):487. doi: 10.1111/pcn.12143. Epub 2014 Feb 12.
No abstract available

Publication types

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

MeSH terms

  • Anemia, Megaloblastic / drug therapy
  • Anemia, Megaloblastic / genetics*
  • Anemia, Megaloblastic / psychology*
  • Diabetes Mellitus / drug therapy
  • Diabetes Mellitus / genetics*
  • Diabetes Mellitus / psychology*
  • Hearing Loss, Sensorineural / drug therapy
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / psychology*
  • Humans
  • Ketoglutarate Dehydrogenase Complex / deficiency*
  • Ketoglutarate Dehydrogenase Complex / genetics
  • Male
  • Membrane Transport Proteins / genetics*
  • Psychotic Disorders / etiology*
  • Psychotic Disorders / genetics
  • Psychotic Disorders / psychology*
  • Thiamine / therapeutic use*
  • Thiamine Deficiency / congenital
  • Vitamins / therapeutic use*
  • Young Adult

Substances

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

Supplementary concepts

  • Thiamine responsive megaloblastic anemia syndrome