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 (