N-Acetylglutamate synthetase deficiency responding to carbamylglutamate

J Inherit Metab Dis. 1997 Nov;20(6):839-40. doi: 10.1023/a:1005344507536.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acetyltransferases / deficiency*
  • Amino-Acid N-Acetyltransferase
  • Ammonia / blood
  • Brain Diseases / etiology
  • Consanguinity
  • Fever
  • Glutamates / therapeutic use*
  • Humans
  • Infant
  • Male
  • Paraplegia / etiology

Substances

  • Glutamates
  • N-carbamylglutamate
  • Ammonia
  • Acetyltransferases
  • Amino-Acid N-Acetyltransferase
  • NAGS protein, human