Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far

Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare metabolic autosomal recessive disease, caused by mutations in the nuclear gene TYMP which encodes the enzyme thymidine phosphorylase. The resulting enzyme deficiency leads to a systemic accumulation of the deoxyribonucleo...

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Bibliographic Details
Main Authors: Dario Pacitti, Michelle Levene, Caterina Garone, Niranjanan Nirmalananthan, Bridget E. Bax
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-12-01
Series:Frontiers in Genetics
Subjects:
MNGIE
thymidine phosphorylase
mitochondrial disease
rare disease
deoxyribonucleoside
TYMP
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2018.00669/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2018.00669/full

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