Ontology highlight
ABSTRACT:
SUBMITTER: Tummolo A
PROVIDER: S-EPMC5911373 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
Tummolo Albina A Melpignano Livio L Carella Antonella A Di Mauro Anna Maria AM Piccinno Elvira E Vendemiale Marcella M Ortolani Federica F Fedele Stefania S Masciopinto Maristella M Papadia Francesco F
Journal of medical case reports 20180422 1
<h4>Background</h4>Propionic acidemia is a rare autosomal recessive inherited metabolic disorder that can inhibit the synthesis of N-acetylglutamate, the obligatory activator in urea synthesis, leading to hyperammonemia. N-carbamylglutamate ameliorates hyperammonemia in decompensated propionic acidemia. The effects of long-term continuous N-acetylglutamate administration in such patients are unknown. We report our clinical experience with continuous administration of N-acetylglutamate for 6 year ...[more]