Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia

Ann Neurol. 2002 Nov;52(5):643-6. doi: 10.1002/ana.10367.


Transient neonatal hyperglycinemia is clinically or biochemically indistinguishable from nonketotic hyperglycinemia at onset. In the case of transient neonatal hyperglycinemia, the elevated plasma and cerebrospinal fluid glycine levels are normalized within 2 to 8 weeks. To elucidate the pathogenesis of transient neonatal hyperglycinemia, we studied three patients by screening mutations in the genes that encode three components of the glycine cleavage system. Heterozygous mutations were identified in all of the three patients, suggesting that transient neonatal hyperglycinemia develops in some heterozygous carriers for nonketotic hyperglycinemia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Oxidoreductases / genetics*
  • Base Sequence / genetics
  • Carrier Proteins / genetics*
  • Child
  • Child, Preschool
  • Female
  • Genetic Testing
  • Glycine Dehydrogenase
  • Glycine Dehydrogenase (Decarboxylating)
  • Heterozygote*
  • Humans
  • Hyperglycinemia, Nonketotic / genetics*
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*


  • Carrier Proteins
  • Amino Acid Oxidoreductases
  • Glycine Dehydrogenase
  • Glycine Dehydrogenase (Decarboxylating)