Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene

Mol Genet Metab. 2011 Jun;103(2):193-6. doi: 10.1016/j.ymgme.2011.02.009. Epub 2011 Feb 22.

Abstract

Nonketotic hyperglycinemia (NKH) is an inborn error of the glycine metabolism. A 9-year-old boy with learning disability and intermittent choreoathetosis during febrile illnesses had elevated plasma glycine level and CSF/plasma glycine ratio (0.044) and a novel homozygous missense mutation (c.605C>T; p.Ala202Val) in the GLDC gene, confirming the diagnosis of NKH. This is the first report of late-onset NKH with a confirmed underlying genetic defect. NKH should be in the differential diagnosis of intermittent choreoathetosis.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Child
  • Dextromethorphan / therapeutic use
  • Excitatory Amino Acid Antagonists / therapeutic use
  • Glycine / blood
  • Glycine / cerebrospinal fluid
  • Glycine Dehydrogenase (Decarboxylating) / genetics*
  • Homozygote*
  • Humans
  • Hyperglycinemia, Nonketotic / diagnosis*
  • Hyperglycinemia, Nonketotic / drug therapy
  • Hyperglycinemia, Nonketotic / genetics*
  • Male
  • Mutation, Missense / genetics*
  • Treatment Outcome

Substances

  • Excitatory Amino Acid Antagonists
  • Dextromethorphan
  • Glycine Dehydrogenase (Decarboxylating)
  • Glycine