Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate

J Pediatr. 2014 Aug;165(2):401-403.e3. doi: 10.1016/j.jpeds.2014.04.012. Epub 2014 May 29.

Abstract

Identical studies using stable isotopes were performed before and after a 3-day trial of oral N-carbamyl-l-glutamate (NCG) in 5 subjects with late-onset carbamyl phosphate synthetase deficiency. NCG augmented ureagenesis and decreased plasma ammonia in 4 of 5 subjects. There was marked improvement in nitrogen metabolism with long-term NCG administration in 1 subject.

Publication types

  • Clinical Trial
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Ammonia / blood
  • Carbamoyl-Phosphate Synthase I Deficiency Disease / blood
  • Carbamoyl-Phosphate Synthase I Deficiency Disease / drug therapy*
  • Child
  • Child, Preschool
  • Female
  • Glutamates / therapeutic use*
  • Glutamine / blood*
  • Humans
  • Linear Models
  • Male
  • Mass Spectrometry
  • Treatment Outcome
  • Urea / metabolism*
  • Young Adult

Substances

  • Glutamates
  • Glutamine
  • N-carbamylglutamate
  • Ammonia
  • Urea