Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

M. Hirano, R. Martí, C. Casali, S. Tadesse, T. Uldrick, B. Fine, D. M. Escolar, M. L. Valentino, I. Nishino, C. Hesdorffer, J. Schwartz, R. G. Hawks, D. L. Martone, M. S. Cairo, S. DiMauro, M. Stanzani, J. H. Garvin, D. G. Savage

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)1458-1460
Number of pages3
JournalNeurology
Volume67
Issue number8
DOIs
StatePublished - Oct 2006

ASJC Scopus subject areas

  • Clinical Neurology

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    Hirano, M., Martí, R., Casali, C., Tadesse, S., Uldrick, T., Fine, B., Escolar, D. M., Valentino, M. L., Nishino, I., Hesdorffer, C., Schwartz, J., Hawks, R. G., Martone, D. L., Cairo, M. S., DiMauro, S., Stanzani, M., Garvin, J. H., & Savage, D. G. (2006). Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology, 67(8), 1458-1460. https://doi.org/10.1212/01.wnl.0000240853.97716.24