https://medicalacademyjournal.com/index.php/maj/issue/feedMedical Academy Journal2025-05-15T13:26:21+00:00Medical Academy Journalnoreply@medicalacademyjournal.comOpen Journal Systems<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>https://medicalacademyjournal.com/index.php/maj/article/view/26Urea cycle disorders: clinical experiences compared.2025-05-15T09:41:54+00:00Francesco Portaporta.franc@gmail.comFederico Baroniobaronioff@hotmail.comAndrea Bordugoandrea.bordugo@asufc.sanita.fvg.itSilvia Di Michelesilvia.dimichele@asl.pe.itMaria Alice Donatim.alicedonati@gmail.comSerena Gasperiniserena.gasperini@irccs-sangerardo.itVincenza Gragnaniellovincenza.gragnaniello@aopd.veneto.itConcetta Melicmeli@policlinico.unict.itFrancesca Mennifrancesca.menni@policlinico.mi.itFrancesca Pellegrinifrancesca.pellegrini@sabes.itLaura Rubertlaura.rubert@aovr.veneto.itMichele Sacchinimichele.sacchini@meyer.itLucia Santorolucia.santoro@ospedaliriuniti.marche.itMaria Cristina Schiaffinocristinaschiaffino@gaslini.orgBarbara Siribarbara.siri@opbg.netAlbina Tummoloalbina.tummolo@policlinico.ba.itMarco Spadamarco.spada@unito.it<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>2025-05-15T00:00:00+00:00Copyright (c) 2025 The Autor(s)