Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications.

Journal of Neurology
Roberto D'AngeloRita Rinaldi

Abstract

We report the longest follow-up of clinical and biochemical features of two previously reported adult mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) patients treated with liver transplantation (LT), adding information on a third, recently transplanted, patient. All three patients overcame the early post-operative period and tolerated immunosuppressive therapy. Plasma nucleoside levels dramatically decreased, with evidence of clinical improvement of ambulation and neuropathy. Conversely, other features of MNGIE, as gastrointestinal dysmotility, low weight, ophthalmoparesis, and leukoencephalopathy were essentially unchanged. A similar picture characterized two patients treated with allogenic hematopoietic stem cell transplantation (AHSCT). In conclusion, LT promptly and stably normalizes nucleoside imbalance in MNGIE, stabilizing or improving some clinical parameters with marginal periprocedural mortality rate as compared to AHSCT. Nevertheless, restoring thymidine phosphorylase (TP) activity, achieved by both LT and AHSCT, does not allow a full clinical recovery, probably due to consolidated cellular damage and/or incomplete enzymatic tissue replacement.

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Citations

Feb 16, 2021·The Journal of Clinical Investigation·Michael Camilleri
May 1, 2021·International Journal of Molecular Sciences·Mark Mencias On Behalf Of The Project Group
Mar 4, 2021·American Journal of Physiology. Gastrointestinal and Liver Physiology·Elisa BoschettiRoberto De Giorgio
Jul 3, 2021·International Journal of Molecular Sciences·Javier RamónRamon Martí

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