Format

Send to

Choose Destination
See comment in PubMed Commons below
Neurology. 2006 Oct 24;67(8):1458-60. Epub 2006 Sep 13.

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE.

Author information

  • 1Department of Neurology, Columbia University Medical Center, 630 W. 168 St., P&S 4-443, New York, NY 10032, USA. mh29@columbia.edu

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.

[PubMed - indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire Icon for PubMed Central
    Loading ...
    Support Center