Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal

Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal

Abstract Background MNGIE is a rare and fatal disease in which absence of the enzyme thymidine phosphorylase induces systemic accumulation of thymidine and deoxyuridine and secondary mitochondrial DNA alterations. Gastrointestinal (GI) symptoms are frequently reported in MNGIE patients, however, the...

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Bibliographic Details
Main Authors: Rana Yadak, Marjolein Breur, Marianna Bugiani
Format: Article
Language:English
Published: BMC 2019-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
MNGIE
Mitochondrial neurogastrointestinal encephalomyopathy
Chronic intestinal pseudo-obstruction
CIPO
Interstitial cells of Cajal
ICC
Online Access:http://link.springer.com/article/10.1186/s13023-019-1016-6

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http://link.springer.com/article/10.1186/s13023-019-1016-6

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