Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia)

Jennifer R. Toone, Derek A. Applegarth, Shigeo Kure, Marion B. Coulter-Mackie, Payam Sazegar, Kanako Kojima, Akiko Ichinohe

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Eight novel mutations were found in the P-protein (glycine decarboxylase) gene (GLDC) of the glycine cleavage system (EC 2.1.1.10) by screening five exons of the gene in patients with glycine encephalopathy (NKH). The mutations identified were of eight single base changes: a one-base deletion 1054del A, a splice site mutation IVS18-2A → G and six amino acid substitutions A283P, A313P, P329T, R410K, P700A, and G762R.

Original languageEnglish
Pages (from-to)243-249
Number of pages7
JournalMolecular Genetics and Metabolism
Volume76
Issue number3
DOIs
Publication statusPublished - 2002

Keywords

  • GLDC
  • Glycine decarboxylase
  • Glycine encephalopathy
  • Mutation
  • NKH
  • Nonketotic hyperglycinemia
  • P-protein

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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