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

Ah Mew, Nicholas; McCarter, Robert; Daikhin, Yevgeny; Lichter-Konecki, Uta; Nissim, Ilana; Yudkoff, Marc; Tuchman, Mendel · J Pediatr · 2014

prospective_cohort · Level II

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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.

Medical subject headings