Biochemical and molecular investigations of patients with nonketotic hyperglycinemia

Mol Genet Metab. 2000 Jun;70(2):116-21. doi: 10.1006/mgme.2000.3000.

Abstract

The investigation of 14 unrelated patients with nonketotic hyperglycinemia led to the identification of mutations in 4 cases. Patients were initially categorized into probable P- or T-protein defects of the glycine cleavage enzyme complex, by the use of the glycine exchange assay without supplemental H-protein, then screened for mutations in the P-protein and T-protein genes, respectively.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • DNA Mutational Analysis*
  • DNA Primers / chemistry
  • Exons
  • Female
  • Glycine / metabolism
  • Homocysteine S-Methyltransferase
  • Humans
  • Hyperglycinemia, Nonketotic / enzymology
  • Hyperglycinemia, Nonketotic / genetics*
  • Infant, Newborn
  • Introns
  • Liver / enzymology
  • Male
  • Methyltransferases / genetics*
  • Methyltransferases / metabolism
  • Molecular Sequence Data
  • Pedigree

Substances

  • DNA Primers
  • Methyltransferases
  • Homocysteine S-Methyltransferase
  • Glycine