N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate

J Inherit Metab Dis. 1998 Dec;21(8):867-8. doi: 10.1023/a:1005478904186.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acetyltransferases / deficiency*
  • Amino-Acid N-Acetyltransferase
  • Ammonia / blood
  • Citrulline / blood
  • Consanguinity
  • Dietary Proteins / administration & dosage
  • Female
  • Glutamates / therapeutic use*
  • Glutamine / blood
  • Humans
  • Infant, Newborn
  • Mitochondria, Liver / enzymology

Substances

  • Dietary Proteins
  • Glutamates
  • Glutamine
  • N-carbamylglutamate
  • Citrulline
  • Ammonia
  • Acetyltransferases
  • Amino-Acid N-Acetyltransferase
  • NAGS protein, human