In a prospective study, patients with a suspected urea cycle defect underwent oral N-carbamoyl-L-glutamic acid loading testing. In patients with subsequent ly confirmed N-acetyl-gltamate synthase deficiency, hyperammo...In a prospective study, patients with a suspected urea cycle defect underwent oral N-carbamoyl-L-glutamic acid loading testing. In patients with subsequent ly confirmed N-acetyl-gltamate synthase deficiency, hyperammonemia normalized within 8 hours. This t est may be useful in the early diagnosis of patients with suspected urea cycle d isorders.展开更多
文摘In a prospective study, patients with a suspected urea cycle defect underwent oral N-carbamoyl-L-glutamic acid loading testing. In patients with subsequent ly confirmed N-acetyl-gltamate synthase deficiency, hyperammonemia normalized within 8 hours. This t est may be useful in the early diagnosis of patients with suspected urea cycle d isorders.
