Glycine decarboxylase mutations: A distinctive phenotype of nonketotic hyperglycinemia in adults

DOI Web Site PubMed 被引用文献3件
  • A. Dinopoulos
    From the Division of Neurology (Drs. Dinopoulos, Gilbert, Degrauw, and G. Chuck), Cincinnati Children’s Hospital Medical Center, Cincinnati, OH; Department of Medical Genetics (Drs. Kure, Sato, and Matsubara), Tohoku University School of Medicine, Japan.
  • S. Kure
    From the Division of Neurology (Drs. Dinopoulos, Gilbert, Degrauw, and G. Chuck), Cincinnati Children’s Hospital Medical Center, Cincinnati, OH; Department of Medical Genetics (Drs. Kure, Sato, and Matsubara), Tohoku University School of Medicine, Japan.
  • G. Chuck
    From the Division of Neurology (Drs. Dinopoulos, Gilbert, Degrauw, and G. Chuck), Cincinnati Children’s Hospital Medical Center, Cincinnati, OH; Department of Medical Genetics (Drs. Kure, Sato, and Matsubara), Tohoku University School of Medicine, Japan.
  • K. Sato
    From the Division of Neurology (Drs. Dinopoulos, Gilbert, Degrauw, and G. Chuck), Cincinnati Children’s Hospital Medical Center, Cincinnati, OH; Department of Medical Genetics (Drs. Kure, Sato, and Matsubara), Tohoku University School of Medicine, Japan.
  • D. L. Gilbert
    From the Division of Neurology (Drs. Dinopoulos, Gilbert, Degrauw, and G. Chuck), Cincinnati Children’s Hospital Medical Center, Cincinnati, OH; Department of Medical Genetics (Drs. Kure, Sato, and Matsubara), Tohoku University School of Medicine, Japan.
  • Y. Matsubara
    From the Division of Neurology (Drs. Dinopoulos, Gilbert, Degrauw, and G. Chuck), Cincinnati Children’s Hospital Medical Center, Cincinnati, OH; Department of Medical Genetics (Drs. Kure, Sato, and Matsubara), Tohoku University School of Medicine, Japan.
  • T. Degrauw
    From the Division of Neurology (Drs. Dinopoulos, Gilbert, Degrauw, and G. Chuck), Cincinnati Children’s Hospital Medical Center, Cincinnati, OH; Department of Medical Genetics (Drs. Kure, Sato, and Matsubara), Tohoku University School of Medicine, Japan.

書誌事項

公開日
2005-04-12
DOI
  • 10.1212/01.wnl.0000156800.23776.40
公開者
Ovid Technologies (Wolters Kluwer Health)

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説明

Three unrelated adult patients with mild hyperglycinemia, infantile hypotonia, mental retardation, behavioral hyperirritability, and aggressive outbursts were screened for glycine decarboxylase (GLDC) mutations; two novel missense mutations (A389V and R739H) were found. Both mutations had a 6 to 8% of normal GLDC activities when expressed in COS7 cells.

収録刊行物

  • Neurology

    Neurology 64 (7), 1255-1257, 2005-04-12

    Ovid Technologies (Wolters Kluwer Health)

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