Congenital glutamine deficiency with glutamine synthetase mutations

N Engl J Med. 2006 Mar 9;354(10):1093-4; author reply 1093-4.
No abstract available

Publication types

  • Comment
  • Letter

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / metabolism*
  • Ammonia / blood*
  • Brain Diseases, Metabolic, Inborn / metabolism*
  • Glutamate-Ammonia Ligase / deficiency
  • Glutamate-Ammonia Ligase / genetics
  • Glutamate-Ammonia Ligase / metabolism*
  • Glutamine / deficiency*
  • Glutamine / metabolism
  • Humans
  • Mutation

Substances

  • Glutamine
  • Ammonia
  • Glutamate-Ammonia Ligase