Hirano, M;
Carelli, V;
De Giorgio, R;
Pironi, L;
Accarino, A;
Cenacchi, G;
D'Alessandro, R;
Filosto, M;
Martí, R;
Nonino, F;
et al.
Hirano, M; Carelli, V; De Giorgio, R; Pironi, L; Accarino, A; Cenacchi, G; D'Alessandro, R; Filosto, M; Martí, R; Nonino, F; Pinna, AD; Baldin, E; Bax, BE; Bolletta, A; Bolletta, R; Boschetti, E; Cescon, M; D'Angelo, R; Dotti, MT; Giordano, C; Gramegna, LL; Levene, M; Lodi, R; Mandel, H; Morelli, MC; Musumeci, O; Pugliese, A; Scarpelli, M; Siniscalchi, A; Spinazzola, A; Tal, G; Torres-Torronteras, J; Vignatelli, L; Zaidman, I; Zoller, H; Rinaldi, R; Zeviani, M
(2021)
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Position Paper on Diagnosis, Prognosis and Treatment by the MNGIE International Network.
Journal of Inherited Metabolic Disease, 44 (2).
pp. 376-387.
ISSN 0141-8955
https://doi.org/10.1002/jimd.12300
SGUL Authors: Bax, Bridget Elizabeth
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Abstract
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused by TYMP mutations and thymidine phosphorylase (TP) deficiency. Thymidine and deoxyuridine accumulate impairing the mitochondrial DNA maintenance and integrity. Clinically, patients show severe and progressive gastrointestinal and neurological manifestations. The onset typically occurs in the second decade of life and mean age at death is 37 years. Signs and symptoms of MNGIE are heterogeneous and confirmatory diagnostic tests are not routinely performed by most laboratories, accounting for common misdiagnosis. Factors predictive of progression and appropriate tests for monitoring are still undefined. Several treatment options showed promising results in restoring the biochemical imbalance of MNGIE. The lack of controlled studies with appropriate follow‐up accounts for the limited evidence informing diagnostic and therapeutic choices. The International Consensus Conference (ICC) on MNGIE, held in Bologna, Italy, on March 30th‐31st, 2019, aimed at an evidence‐based consensus on diagnosis, prognosis and treatment of MNGIE among experts, patients, caregivers and other stakeholders involved in caring the condition. The conference was conducted according to the National Institute of Health Consensus Conference methodology. A consensus development panel formulated a set of statements and proposed a research agenda. Specifically, the ICC produced recommendations on: (1) diagnostic pathway; (2) prognosis and the main predictors of disease progression; (3) efficacy and safety of treatments; and (4) research priorities on diagnosis, prognosis and treatment. The Bologna ICC on diagnosis, management and treatment of MNGIE provided evidence‐based guidance for clinicians incorporating patients' values and preferences.
Item Type: |
Article
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Additional Information: |
This is the peer reviewed version of the following article: Hirano, M, Carelli, V, De Giorgio, R, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network. J Inherit Metab Dis. 2021; 44: 376– 387, which has been published in final form at https://doi.org/10.1002/jimd.12300. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. |
Keywords: |
Genetics & Heredity, 1103 Clinical Sciences |
SGUL Research Institute / Research Centre: |
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) |
Journal or Publication Title: |
Journal of Inherited Metabolic Disease |
ISSN: |
0141-8955 |
Language: |
en |
Dates: |
Date | Event |
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25 March 2021 | Published | 8 September 2020 | Published Online | 5 August 2020 | Accepted |
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Publisher License: |
Publisher's own licence |
URI: |
https://openaccess.sgul.ac.uk/id/eprint/112233 |
Publisher's version: |
https://doi.org/10.1002/jimd.12300 |
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