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

doi:10.1016/s1096-7192(02)00041-0

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

Mol Genet Metab. 2002 Jul;76(3):243-9. doi: 10.1016/s1096-7192(02)00041-0.

Authors

Jennifer R Toone¹, Derek A Applegarth, Shigeo Kure, Marion B Coulter-Mackie, Payam Sazegar, Kanako Kojima, Akiko Ichinohe

Affiliation

¹ Department of Pediatrics, University of British Columbia, BC, Vancouver, Canada.

PMID: 12126939
DOI: 10.1016/s1096-7192(02)00041-0

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Metabolism, Inborn Errors / enzymology
Amino Acid Metabolism, Inborn Errors / genetics*
Amino Acid Oxidoreductases / genetics*
Base Sequence
Brain Diseases / enzymology
Brain Diseases / genetics*
DNA Primers
Exons
Glycine / metabolism*
Glycine Dehydrogenase (Decarboxylating)
Humans
Introns
Mutation*
Polymerase Chain Reaction

Substances

DNA Primers
Amino Acid Oxidoreductases
Glycine Dehydrogenase (Decarboxylating)
Glycine