Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.

@article{Mart2005LateonsetMD,
  title={Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.},
  author={Ram{\'o}n Mart{\'i} and Jan J G M Verschuuren and Alan L. Buchman and Ikuo Hirano and Saba Tadesse and Andr{\'e} B P van Kuilenburg and Albert H van Gennip and Ben J. H. M. Poorthuis and M Hirano},
  journal={Annals of neurology},
  year={2005},
  volume={58 4},
  pages={649-52}
}
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by mutations in the gene encoding thymidine phosphorylase (TP). All MNGIE patients have had severe loss of TP function and prominent plasma accumulations of the TP substrates thymidine (dThd) and deoxyuridine (dUrd). Here, we report for the first time to our knowledge three MNGIE patients with later onset, milder phenotype, and less severe TP dysfunction, compared with typical MNGIE patients. This report demonstrates a… CONTINUE READING

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Mitochondrial neurogastrointestinal encephalomyopathy ( MNGIE ) is caused by mutations in the gene encoding thymidine phosphorylase ( TP ) .
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