Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: Mutational and in vitro expression analyses in two patients

Shigeo Kure, Akiko Ichinohe, Kanako Kojima, Kenichi Sato, Zenro Kizaki, Fumio Inoue, Chutaro Yamanaka, Yoichi Matsubara

Research output: Contribution to journalArticlepeer-review

22 Citations (Scopus)

Abstract

In neonatal-onset nonketotic hyperglycinemia, severe psychomotor retardation is the expected uniform outcome. We report two patients with typical neonatal presentation who showed far better developmental outcomes. The in vitro expression analysis of the identified GLDC mutations revealed considerable residual enzyme activity, suggesting prognostic and enzymatic heterogeneity even in neonatal-onset nonketotic hyperglycinemia.

Original languageEnglish
Pages (from-to)827-829
Number of pages3
JournalJournal of Pediatrics
Volume144
Issue number6
DOIs
Publication statusPublished - 2004 Jun

Keywords

  • DQ
  • Developmental quotients
  • GCS
  • GLDC
  • Glycine cleavage system
  • Glycine decarboxylase
  • N-methyl-D-aspartate
  • NKH
  • NMDA
  • Nonketotic hyperglycinemia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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