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Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
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International audience. first_pagesettingsOrder Article ReprintsOpen AccessArticleThree-Country Snapshot of Ornithine Transcarbamylase Deficiencyby Berna Seker Yilmaz1,* [ORCID] , Julien Baruteau1,2,3 [ORCID] , Nur Arslan4 [ORCID] , Halil Ibrahim Aydin5, Magalie Barth6, Ayse Ergul Bozaci7 [ORCID] , Anais Brassier8, Ebru Canda9, Aline Cano10, Efstathia Chronopoulou11, Grainne M. Connolly12, Lena Damaj13, Charlotte Dawson14, Dries Dobbelaere15, Claire Douillard15, Fatma Tuba Eminoglu16, Sahin Erdol17, Melike Ersoy18, Sherry Fang3, François Feillet19, add Show full author list1Genetics and Genomic Medicine Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK2National Institute of Health Research Great Ormond Street Biomedical Research Centre, London WC1N 1EH, UK3Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK4Paediatric Metabolic Medicine Department, Dokuz Eylul University Faculty of Medicine, Izmir 35340, Turkey5Paediatric Metabolic Medicine Department, Baskent University Faculty of Medicine, Ankara 06490, Turkey6Centre de Référence des Maladies Héréditaires du Métabolisme, CHU Angers, 4 rue Larrey, CEDEX 9, 49933 Angers, France7Paediatric Metabolic Medicine Department, Diyarbakir Children’s Hospital, Diyarbakir 21100, Turkey8Reference Center for Inborn Errors of Metabolism, Necker University Hospital, APHP and University of Paris Cité, 75015 Paris, France9Paediatric Metabolic Medicine Department, Ege University Faculty of Medicine, Izmir 35100, Turkey10Reference Center of Inherited Metabolic Disorders, Timone Enfants Hospital, 264 rue Saint-Pierre, 13005 Marseille, France11Department of Inherited Metabolic Disease, Division of Women’s and Children’s Services, University Hospitals Bristol NHS Foundation Trust, Bristol BS1 3NU, UK12Belfast Health and Social Care Trust, Belfast BT9 7AB, UK13Centre de Compétence Maladies Héréditaires du Métabolisme, CHU Hôpital Sud, CEDEX 2, 35203 Rennes, France14Metabolic Medicine Department, University Hospitals Birmingham NHS Foundation Trust, Birmingham B15 2GW, UK15Medical Reference Center for Inherited Metabolic Diseases, Jeanne de Flandre University Hospital and RADEME Research Team for Rare Metabolic and Developmental Diseases, EA 7364 CHRU Lille, 59000 Lille, France16Paediatric Metabolic Medicine Department, Ankara University Faculty of Medicine, Ankara 06080, Turkey17Paediatric Metabolic Medicine Department, Uludag University Faculty of Medicine, Bursa 16059, Turkey18Paediatric Metabolic Medicine Department, Dr Sadi Konuk Reseach & Training Hospital, Istanbul 34450, Turkey19Centre de Référence des Maladies Métaboliques de Nancy, CHU Brabois Enfants, 5 Rue du Morvan, 54500 Vandœuvre-lès-Nancy, France20Paediatric Metabolic Medicine Department, Istanbul University Istanbul Faculty of Medicine, Istanbul 34093, Turkey21Paediatric Metabolic Medicine Department, Cengiz Gokcek Children’s Hospital, Gaziantep 27010, Turkey22Centre de Référence des Maladies Rares du Métabolisme, Hôpital des Enfants—CHU Toulouse, 330 Avenue de Grande-Bretagne, CEDEX 9, 31059 Toulouse, France23Paediatric Metabolic Medicine Department, Gazi University Faculty of Medicine, Ankara 06500, Turkey24Paediatric Metabolic Medicine Department, Konya City Hospital, Konya 42020, Turkey25Paediatric Metabolic Medicine Department, Erciyes University Faculty of Medicine, Kayseri 38030, Turkey26Paediatric Metabolic Medicine Department, Ankara Yildirim Beyazit University Faculty of Medicine, Ankara 06800, Turkey27Paediatric Metabolic Medicine Department, Osmangazi University Faculty of Medicine, Eskisehir 26480, Turkey28Paediatric Metabolic Medicine Department, Cukurova University Faculty of Medicine, Adana 01250, Turkey29Paediatric Metabolic Medicine Department, Faculty of Medicine, Izmir Katip Celebi University, Izmir 35620, Turkey30MMDN, University Montpellier, EPHE, INSERM, 34090 Montpellier, France31Expert Center for Metabolic and Neurogenetic Diseases, Centre Hospitalier Universitaire (CHU), 34090 Montpellier, France32Evelina Children’s Hospital, Guy’s and St Thomas’ NHS Foundation Trust, London SE1 7EH, UK33Royal Belfast Hospital for Sick Children, Belfast BT12 6BA, UK34Paediatric Metabolic Medicine Department, Marmara University Faculty of Medicine, Istanbul 34854, Turkey35Guy’s and St Thomas’ NHS Foundation Trust, London SE1 7EH, UK36Paediatric Metabolic Medicine Department, Antalya Training and Research Hospital, Antalya 07100, Turkey37Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Birmingham B4 6NH, UK38Adult Inherited Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford M6 8HD, UK39Paediatric Metabolic Medicine Department, Kocaeli University Faculty of Medicine, Kocaeli 41380, Turkey40Paediatric Metabolic Medicine Department, Hacettepe University Faculty of Medicine, Ankara 06230, Turkey41Paediatric Metabolic Medicine Department, Istanbul University-Cerrahpasa Faculty of Medicine, Istanbul 34096, Turkey remove Hide full affiliation list*Author to whom correspondence should be addressed.Life 2022, 12(11), 1721; https://doi.org/10.3390/life12111721Submission received: 22 September 2022 / Revised: 24 October 2022 / Accepted: 25 October 2022 / Published: 27 October 2022(This article belongs to the Topic Rare Diseases Are Not Rare)Downloadkeyboard_arrow_downBrowse FiguresVersions NotesAbstractX-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. We audited the diagnosis and management of OTCD, using an online 12-question-survey that was sent to 75 metabolic centres in Turkey, France and the UK. Thirty-nine centres responded and 495 patients were reported in total. A total of 208 French patients were reported, including 71 (34%) males, 86 (41%) symptomatic and 51 (25%) asymptomatic females. Eighty-five Turkish patients included 32 (38%) males, 39 (46%) symptomatic and 14 (16%) asymptomatic females. Out of the 202 UK patients, 66 (33%) were male, 83 (41%) asymptomatic and 53 (26%) symptomatic females. A total of 19%, 12% and 7% of the patients presented with a neonatal-onset phenotype in France, Turkey and the UK, respectively. Vomiting, altered mental status and encephalopathy were the most common initial symptoms in all three countries. While 69% in France and 79% in Turkey were receiving protein restriction, 42% were on a protein-restricted diet in the UK. A total of 76%, 47% and 33% of patients were treated with ammonia scavengers in Turkey, France and the UK, respectively. The findings of our audit emphasize the differences and similarities in manifestations and management practices in three countries.Keywords:ornithine transcarbamylase deficiency; hyperammonaemia; neonatal-onset; late-onset; asymptomatic; protein restriction; ammonia scavengers; liver transplantation
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