Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid test.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 16126063.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
In a prospective study, patients with a suspected urea cycle defect underwent oral N-carbamoyl-L-glutamic acid loading testing. In patients with subsequently confirmed N-acetylglutamate synthase deficiency, hyperammonemia normalized within 8 hours. This test may be useful in the early diagnosis of patients with suspected urea cycle disorders.
Medical subject headings
- Acetyltransferases
- Glutamates
- Hyperammonemia