{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T15:07:21Z","timestamp":1793459241087,"version":"4.5.0"},"reference-count":41,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2022,10,27]],"date-time":"2022-10-27T00:00:00Z","timestamp":1666828800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Medical Research Council","award":["MR\/S019111\/1"],"award-info":[{"award-number":["MR\/S019111\/1"]}]},{"name":"Medical Research Council","award":["NIHR202370"],"award-info":[{"award-number":["NIHR202370"]}]},{"name":"Medical Research Council","award":["MR\/T008024\/1"],"award-info":[{"award-number":["MR\/T008024\/1"]}]},{"name":"National Institute of Health Research Senior Investigator Award","award":["MR\/S019111\/1"],"award-info":[{"award-number":["MR\/S019111\/1"]}]},{"name":"National Institute of Health Research Senior Investigator Award","award":["NIHR202370"],"award-info":[{"award-number":["NIHR202370"]}]},{"name":"National Institute of Health Research Senior Investigator Award","award":["MR\/T008024\/1"],"award-info":[{"award-number":["MR\/T008024\/1"]}]},{"name":"Medical Research Council Clinician Scientist Fellowship","award":["MR\/S019111\/1"],"award-info":[{"award-number":["MR\/S019111\/1"]}]},{"name":"Medical Research Council Clinician Scientist Fellowship","award":["NIHR202370"],"award-info":[{"award-number":["NIHR202370"]}]},{"name":"Medical Research Council Clinician Scientist Fellowship","award":["MR\/T008024\/1"],"award-info":[{"award-number":["MR\/T008024\/1"]}]},{"name":"NIHR Great Ormond Street Hospital Biomedical Research Centre","award":["MR\/S019111\/1"],"award-info":[{"award-number":["MR\/S019111\/1"]}]},{"name":"NIHR Great Ormond Street Hospital Biomedical Research Centre","award":["NIHR202370"],"award-info":[{"award-number":["NIHR202370"]}]},{"name":"NIHR Great Ormond Street Hospital Biomedical Research Centre","award":["MR\/T008024\/1"],"award-info":[{"award-number":["MR\/T008024\/1"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Life"],"abstract":"<jats:p>X-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.<\/jats:p>","DOI":"10.3390\/life12111721","type":"journal-article","created":{"date-parts":[[2022,10,27]],"date-time":"2022-10-27T22:36:17Z","timestamp":1666910177000},"page":"1721","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Three-Country Snapshot of Ornithine Transcarbamylase Deficiency"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0425-0341","authenticated-orcid":false,"given":"Berna","family":"Seker Yilmaz","sequence":"first","affiliation":[{"name":"Genetics and Genomic Medicine Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0582-540X","authenticated-orcid":false,"given":"Julien","family":"Baruteau","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK"},{"name":"National Institute of Health Research Great Ormond Street Biomedical Research Centre, London WC1N 1EH, UK"},{"name":"Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3151-3741","authenticated-orcid":false,"given":"Nur","family":"Arslan","sequence":"additional","affiliation":[{"name":"Paediatric Metabolic Medicine Department, Dokuz Eylul University Faculty of Medicine, Izmir 35340, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Halil Ibrahim","family":"Aydin","sequence":"additional","affiliation":[{"name":"Paediatric Metabolic Medicine Department, Baskent University Faculty of Medicine, Ankara 06490, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magalie","family":"Barth","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, CHU Angers, 4 rue Larrey, CEDEX 9, 49933 Angers, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9783-1016","authenticated-orcid":false,"given":"Ayse Ergul","family":"Bozaci","sequence":"additional","affiliation":[{"name":"Paediatric Metabolic Medicine Department, Diyarbakir Children\u2019s Hospital, Diyarbakir 21100, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anais","family":"Brassier","sequence":"additional","affiliation":[{"name":"Reference Center for Inborn Errors of Metabolism, Necker University 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M.","family":"Connolly","sequence":"additional","affiliation":[{"name":"Belfast Health and Social Care Trust, Belfast BT9 7AB, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lena","family":"Damaj","sequence":"additional","affiliation":[{"name":"Centre de Comp\u00e9tence Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, CHU H\u00f4pital Sud, CEDEX 2, 35203 Rennes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Dawson","sequence":"additional","affiliation":[{"name":"Metabolic Medicine Department, University Hospitals Birmingham NHS Foundation Trust, Birmingham B15 2GW, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dries","family":"Dobbelaere","sequence":"additional","affiliation":[{"name":"Medical 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, 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Ormond Street Biomedical Research Centre, London WC1N 1EH, UK"},{"name":"Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"S97","DOI":"10.1016\/j.ymgme.2010.01.014","article-title":"Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium","volume":"100","author":"Seminara","year":"2010","journal-title":"Mol. 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