https://medicalacademyjournal.com/index.php/maj <p><strong>Medical Academy Journal (MAJ)</strong> is an open access peer-reviewed online journal with a multidisciplinary editorial board of experts. The language of the journal is English.</p> <p>MAJ is dedicated to the fast publication and global dissemination of high-quality research, freely accessible in all aspects of Health Sciences and Medical Care. All manuscripts must present the general criteria of originality, timeliness, significance and scientific excellence.</p> <p>Areas of focus include, but are not limited, Dermatology, Gastroenterology, Cardiology, Ophthalmology, Rheumatology, Oncology, General Surgery, Nutrition, Hematology and General Practice.</p> <p><strong> </strong></p> MA-CRO en-US Medical Academy Journal 2974-8062 <p><strong><em>Ma.CRO Lifescience Srl</em></strong> has chosen to apply the <a href="http://creativecommons.org/licenses/by-nc/4.0/" target="_blank" rel="noopener">Creative Commons Attribution NonCommercial 4.0 International License</a> (CC BY-NC 4.0) to all manuscripts to be published.</p> https://medicalacademyjournal.com/index.php/maj/article/view/26 <p>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.<br>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.</p> Francesco Porta Federico Baronio 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 Copyright (c) 2025 The Autor(s) https://creativecommons.org/licenses/by-nc/4.0 2025-05-15 2025-05-15 4 1 10.56823/PXIF4604