Urea cycle disorders: clinical experiences compared.
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.
Authors
- Albina Tummolo (ORCID: https://orcid.org/0000-0001-8823-8061)
- Concetta Meli
- Maria Alice Donati (ORCID: https://orcid.org/0000-0003-4769-5025)
- Andrea Bordugo (ORCID: https://orcid.org/0000-0003-1927-8187)
- Michele Sacchini
- Francesca Menni (ORCID: https://orcid.org/0000-0003-2724-2811)
- Federico Baronio (ORCID: https://orcid.org/0000-0003-3470-6880)
- Francesco Porta (ORCID: https://orcid.org/0000-0003-3899-4867)
- Laura Rubert
- Vincenza Gragnaniello (ORCID: https://orcid.org/0000-0001-6384-652X)
- Barbara Siri (ORCID: https://orcid.org/0000-0002-2876-4745)
- Serena Gasperini (ORCID: https://orcid.org/0000-0001-8743-4407)
- Silvia Di Michele (ORCID: https://orcid.org/0000-0003-0484-2814)
- Marco Spada (ORCID: https://orcid.org/0000-0002-8894-350X)
- Maria Cristina Schiaffino
- Lucia Santoro (ORCID: https://orcid.org/0000-0002-8987-4139)
- Francesca Ferrari Pellegrini
Institutions
- Marche Polytechnic University (IT)
- University of Padua (IT)
- Istituto Giannina Gaslini (IT)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Azienda Ospedaliera Citta' della Salute e della Scienza di Torino (IT)
- Ospedale di Bolzano (IT)
- Azienda Ospedaliera Universitaria Integrata Verona (IT)
- Azienda Ospedaliera San Gerardo (IT)
- Meyer Children's Hospital (IT)
- Agenzia Regionale Sanitaria della Puglia (IT)
- Azienda USL di Bologna (IT)
- Bambino Gesù Children's Hospital (IT)
- Policlinico Universitario di Catania (IT)
- Ospedale Pediatrico Giovanni XXIII (IT)
- Azienda USL di Pescara (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
Publication Details
- Journal
- Medical Academy Journal
- Published
- 2025-05-15
- DOI
- https://doi.org/10.56823/pxif4604
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00