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Neurology. 2006 Oct 24;67(8):1461-3. Epub 2006 Sep 13.

Infusion of platelets transiently reduces nucleoside overload in MNGIE.

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1
Laboratori de Patologia Neuromuscular i Mitocondrial, Institut de Recerca Hospital Universitari Vall d'Hebron, Pg. Vall d'Hebron 119, 08035 Barcelona, Spain.

Abstract

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.

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