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.

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