Thymidine Phosphorylase Gene Mutations Cause Mitochondrial ...

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Thymidine Phosphorylase Gene Mutations Cause. Mitochondrial Neurogastrointestinal. Encephalomyopathy (MNGIE). Michio Hirano1, Ichizo Nishino2, Yutaka ...


LETTERS TO THE EDITOR



Thymidine Phosphorylase Gene Mutations Cause Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Michio Hirano 1, Ichizo Nishino 2, Yutaka Nishigaki 3 and Ramon Martí 4 Key words: MNGIE, Mitochondrial, thymidine phosphorylase (DOI: 10.2169/internalmedicine.45.6064)

To the Editor: We read the article by Dr. Kumagai and colleagues and the accompanying editorial with great interest (1, 2). In their paper, the authors describe a Japanese woman with mitochondrial neurogastrointestinal encephalomyopathy (MNG-IE). MNGIE is an autosomal recessive disease caused by lossof-function mutations in the ECGF1 gene encoding thymidine phosphorylase (TP) (3, 4). In MNGIE, the severe loss of TP activity (