Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

Neurology. 2006 Oct 24;67(8):1458-60. doi: 10.1212/01.wnl.0000240853.97716.24. Epub 2006 Sep 13.

Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a multisystemic autosomal recessive disease due to primary thymidine phosphorylase (TP) deficiency. To restore TP activity, we performed reduced intensity allogeneic stem cell transplantations (alloSCTs) in two patients. In the first, alloSCT failed to engraft, but the second achieved mixed donor chimerism, which partially restored buffy coat TP activity and lowered plasma nucleosides. Thus, alloSCT can correct biochemical abnormalities in the blood of patients with MNGIE, but clinical efficacy remains unproven.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Female
  • Gastrointestinal Diseases / blood*
  • Gastrointestinal Diseases / surgery*
  • Humans
  • Male
  • Mitochondrial Encephalomyopathies / blood*
  • Mitochondrial Encephalomyopathies / surgery*
  • Nervous System Diseases / blood*
  • Nervous System Diseases / surgery*
  • Nucleosides / blood
  • Stem Cell Transplantation*
  • Thymidine Phosphorylase / blood
  • Transplantation Chimera
  • Transplantation, Homologous
  • Treatment Failure

Substances

  • Nucleosides
  • Thymidine Phosphorylase