Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test.

@article{Kure2006RapidDO,
  title={Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test.},
  author={Shigeo Kure and Stanley H. Korman and Junko Kanno and Ayumi Narisawa and Mitsuru Kubota and Toshimitsu Takayanagi and Masaki Takayanagi and Takashi Saito and Akira Matsui and Fumiaki Kamada and Yoko Aoki and Toshihiro Ohura and Yoichi Matsubara},
  journal={Annals of neurology},
  year={2006},
  volume={59 5},
  pages={862-7}
}
OBJECTIVE It is currently problematic to confirm the clinical diagnosis of glycine encephalopathy, requiring either invasive liver biopsy for enzymatic analysis of the glycine cleavage system or exhaustive mutation analysis. Because the glycine cleavage system breaks down glycine generating carbon dioxide, we suppose that the glycine cleavage system activity could be evaluated in vivo by measuring exhaled (13)CO(2) after administration of [1-(13)C]glycine. METHODS The [1-(13)C]glycine breath… CONTINUE READING