Urea cycle disorders: clinical experiences compared.

A series of cases from 14 Italian Centers

Authors

  • Francesco Porta Department of Pediatrics, Azienda Ospedaliera Universitaria Città della Salute e della Scienza di Torino, University of Torino, Torino, Italy - Department of Clinical and Biological Sciences, University of Torino, Italy
  • Federico Baronio Pediatric Unit, IRCCS Azienda Ospedaliera Universitaria di Bologna, Bologna, Italy
  • Andrea Bordugo Metabolic and Syndromic Diseases Unit, Regional Center for Rare Diseases, Azienda Sanitaria Università Integrata Friuli Centrale (ASUFC), Udine, Italy
  • Silvia Di Michele Department of Pediatrics, Ospedale di Pescara, Pescara, Italy
  • Maria Alice Donati Inborn Metabolic and Muscular Diseases Unit, Neuroscience Department, Children’s Hospital A. Meyer IRCCS, Firenze, Italy - Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy
  • Serena Gasperini Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy
  • Vincenza Gragnaniello Division of Inherited Metabolic Diseases, Department of Women’s and Children’s Health, University of Padua, Padova, Italy
  • Concetta Meli Department of Pediatrics, Regional Center for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases, Azienda Ospedaliera Universitaria Policlinico, Catania, Italy
  • Francesca Menni Department of Pediatrics, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milano, Italy
  • Francesca Pellegrini Neonatology and Neonatal Intensive Care Unit, Azienda Sanitaria Alto Adige, Bolzano, Italy
  • Laura Rubert Department of Pediatrics, Regional Center for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, Verona, Italy
  • Michele Sacchini Inborn Metabolic and Muscular Diseases Unit, Neuroscience Department, Children’s Hospital A. Meyer IRCCS, Firenze, Italy
  • Lucia Santoro Department of Clinical Sciences, Division of Pediatrics, Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy
  • Maria Cristina Schiaffino Department of Pediatrics and Endocrinology, Istituto Giannina Gaslini IRCCS, Genova, Italy
  • Barbara Siri Division of Metabolic Diseases and Hepatology, Bambino Gesù Children’s Hospital IRCCS, Roma, Italy
  • Albina Tummolo Department of Metabolic Diseases and Clinical Genetics, Giovanni XXIII Children Hospital, Azienda Ospedaliera Universitaria Consorziale, Bari, Italy
  • Marco Spada Department of Pediatrics, Azienda Ospedaliera Universitaria Città della Salute e della Scienza di Torino, University of Torino, Torino, Italy

DOI:

https://doi.org/10.56823/PXIF4604

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.

Published

2025-05-15

Issue

Section

Articles