Year: 2025
Type: article
Abstract: Protein and amino acids homeostasis depends on complex anabolic and catabolic-oxidative processes. In adults, the estimated daily protein turnover is 250-400 g, largely exceeding dietary protein intake (50-80 g/day).1 The urea cycle is a fundamental metabolic pathway for detoxification of ammonia derived from protein catabolism. Localized exclusively in the liver, it is characterized by a series of successive mitochondrial and cytosolic reactions that lead to the production of urea.Within the complex context of inherited metabolic diseases, defects in the urea cycle represent an important cause of mortality and morbidity, with highly specialized clinical-diagnostic and therapeutic implications. In particular, patients affected by severe mitochondrial (and in some cases cytosolic) defects in the urea cycle present neonatal hyperammonemic coma, representing an absolute neonatal metabolic emergency.
Source: Medical Academy Journal
DOI: 10.56823/pxif4604
Authors: Federico Baronio, Francesco Porta, Andrea Bordugo, Silvia Di Michele, Maria Alice Donati, Serena Gasperini, Vincenza Gragnaniello, Concetta Meli, Francesca Menni, Francesca Pellegrini, Laura Rubert, Michele Sacchini, Lucia Santoro, Maria Cristina Schiaffino, Barbara Siri, Albina Tummolo, Marco Spada
Institutions: IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola, Azienda Ospedaliera Citta' della Salute e della Scienza di Torino, University of Turin, Azienda sanitaria universitaria Friuli Centrale, Azienda USL di Pescara, Meyer Children's Hospital, University of Florence, University of Padua, Policlinico Universitario di Catania, Azienda Ospedaliero Universitaria Policlinico "G.Rodolico - San Marco", Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Azienda Sanitaria dell'Alto Adige, Azienda Ospedaliera Universitaria Integrata Verona, Marche Polytechnic University, Istituto Giannina Gaslini, Bambino Gesù Children's Hospital, Azienda Universitaria Ospedaliera Consorziale - Policlinico Bari, Ospedale Pediatrico Giovanni XXIII
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4410402072