Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia

Shigeo Kure, Kanako Kojima, Akiko Ichinohe, Tomoki Maeda, Rozalia Kalmanchey, György Fekete, Suzan Z. Berg, Jim Filiano, Yoko Aoki, Yoichi Suzuki, Tatsuro Izumi, Yoichi Matsubara

Research output: Contribution to journalArticlepeer-review

20 Citations (Scopus)


Transient neonatal hyperglycinemia is clinically or biochemically indistinguishable from nonketotic hyperglycinemia at onset. In the case of transient neonatal hyperglycinemia, the elevated plasma and cerebrospinal fluid glycine levels are normalized within 2 to 8 weeks. To elucidate the pathogenesis of transient neonatal hyperglycinemia, we studied three patients by screening mutations in the genes that encode three components of the glycine cleavage system. Heterozygous mutations were identified in all of the three patients, suggesting that transient neonatal hyperglycinemia develops in some heterozygous carriers for nonketotic hvperglycinemia.

Original languageEnglish
Pages (from-to)643-646
Number of pages4
JournalAnnals of Neurology
Issue number5
Publication statusPublished - 2002 Nov 1

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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