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Rapid diagnosis of glycine encephalopathy by 13 C‐glycine breath test
Author(s) -
Kure Shigeo,
Korman Stanley H.,
Kanno Junko,
Narisawa Ayumi,
Kubota Mitsuru,
Takayanagi Toshimitsu,
Takayanagi Masaki,
Saito Takashi,
Matsui Akira,
Kamada Fumiaki,
Aoki Yoko,
Ohura Toshihiro,
Matsubara Yoichi
Publication year - 2006
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20853
Subject(s) - glycine cleavage system , glycine , breath test , encephalopathy , chemistry , medicine , biochemistry , gastroenterology , amino acid , helicobacter pylori
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 test was performed in 10 control subjects and 5 glycine encephalopathy patients with GLDC mutation, including 1 patient with mild glycine encephalopathy. Results All the patients showed lower 13 CO 2 excretion than any control subject. Interpretation Not only typical GE but also atypical GE can be reliably diagnosed by the 13 C‐glycine breath test. Because it is rapid, non‐invasive, and requires little expertise, the breath test could be useful as a standard test for diagnosing GE. Ann Neurol 2006;59:862–867