Article
Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).
Molecular genetics and metabolism - 1 Jul 2002
Toone Jennifer R, Applegarth Derek A, Kure Shigeo, Coulter-Mackie Marion B, Sazegar Payam, Kojima Kanako, Ichinohe Akiko
Abstract excerpt
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.
Topics
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Oxidoreductases
- Base Sequence
- Brain Diseases
- DNA Primers
- Exons
- Glycine
- Glycine Dehydrogenase (Decarboxylating)
- Humans
- Introns
- Mutation
- Polymerase Chain Reaction