Infusion of platelets transiently reduces nucleoside overload in MNGIE

M. C. Lara, B. Weiss, I. Illa, P. Madoz, L. Massuet, A. L. Andreu, M. L. Valentino, Y. Anikster, M. Hirano, R. Martí*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by thymidine phosphorylase (TP) deficiency, which leads to toxic accumulations of thymidine (dThd) and deoxyuridine (dUrd). In this work, we report that infusion of platelets from healthy donors to patients with MNGIE restored transiently circulating TP and reduced plasma dThd and dUrd levels, suggesting that treatments to achieve permanent restoration of circulating TP such as allogeneic stem cell transplantation or gene transfer might be therapeutic.

Original languageEnglish
Pages (from-to)1461-1463
Number of pages3
Issue number8
StatePublished - Oct 2006


Dive into the research topics of 'Infusion of platelets transiently reduces nucleoside overload in MNGIE'. Together they form a unique fingerprint.

Cite this