A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem

Avihu Boneh, Stanley H. Korman, Kenichi Sato, Junko Kanno, Yoichi Matsubara, Israela Lerer, Ziva Ben-Neriah, Shigeo Kure

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Glycine encephalopathy (GE) (non-ketotic hyperglycinemia) is an autosomal recessive neurometabolic disease caused by defective activity of the glycine cleavage system. Clinically, patients present usually in the neonatal period with hypotonia, encephalopathy, hiccups and breath arrests with or without overt seizures. GE is considered rare, but its incidence is relatively high in several geographical areas around the world. We report a novel mutation causing GE in six extended Arab families, all from a small suburban village (population 5,000). A methionine to threonine change in the initiation codon of the glycine decarboxylase gene led to markedly reduced glycine decarboxylase mRNA levels and abolished glycine cleavage system activity.

Original languageEnglish
Pages (from-to)230-234
Number of pages5
JournalJournal of Human Genetics
Volume50
Issue number5
DOIs
Publication statusPublished - 2005 May 1

Keywords

  • Glycine decarboxylase
  • Glycine encephalopathy
  • Initiation codon
  • Mutation
  • Non-ketotic hyperglycinemia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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