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

Arigirios Dinopoulos, S. Kure, G. Chuck, K. Sato, D. L. Gilbert, Y. Matsubara, T. Degrauw

Research output: Contribution to journalArticlepeer-review

27 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1255-1257
Number of pages3
JournalNeurology
Volume64
Issue number7
DOIs
Publication statusPublished - 2005 Apr 12

ASJC Scopus subject areas

  • Clinical Neurology

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