Publications by authors named "Anna Maria Di Mauro"
J Med Case Rep
April 2018
Article Synopsis
- Propionic acidemia is a rare genetic metabolic disorder that can lead to high ammonia levels due to impaired urea synthesis, and N-carbamylglutamate has been shown to help manage hyperammonemia in these patients.
- A case study involving a male patient treated continuously with N-acetylglutamate for six years showed a significant reduction in plasma ammonia levels and fewer hyperammonemia episodes compared to before treatment.
- The findings indicate potential benefits of long-term N-acetylglutamate administration, suggesting the need for further research to refine dosages and evaluate interactions with other treatments.
