Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).
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.
Toone
Jennifer R
JR
Department of Pediatrics, University of British Columbia, BC, Vancouver, Canada.
Applegarth
Derek A
DA
Kure
Shigeo
S
Coulter-Mackie
Marion B
MB
Sazegar
Payam
P
Kojima
Kanako
K
Ichinohe
Akiko
A
D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D001483:Base Sequence; D001927:Brain Diseases / Q000201:enzymology / Q000235:genetics*; D017931:DNA Primers; D005091:Exons; D005998:Glycine / Q000378:metabolism*; D050841:Glycine Dehydrogenase (Decarboxylating); D006801:Humans; D007438:Introns; D009154:Mutation; D016133:Polymerase Chain Reaction
D017931:DNA Primers; D000594:Amino Acid Oxidoreductases; D050841:Glycine Dehydrogenase (Decarboxylating); D005998:Glycine