Augmenting Ureagenesis in Patients with Partial Carbamyl Phosphate Synthetase 1 Deficiency with N-carbamyl-L-glutamate

作者：Mew Nicholas Ah^*; McCarter Robert; Daikhin Yevgeny; Lichter Konecki Uta; Nissim Ilana; Yudkoff Marc; Tuchman Mendel

来源：Journal of Pediatrics, 2014, 165(2): 401-U248.

DOI：10.1016/j.jpeds.2014.04.012

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.

• 出版日期2014-8