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Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

Seker Yilmaz, Berna; Baruteau, Julien; Arslan, Nur; Aydin, Halil Ibrahim; Barth, Magalie; Bozaci, Ayse Ergul; Brassier, Anais; ... Gissen, Paul; + view all (2022) Three-Country Snapshot of Ornithine Transcarbamylase Deficiency. Life , 12 (11) , Article 1721. 10.3390/life12111721. Green open access

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Abstract

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.

Type: Article
Title: Three-Country Snapshot of Ornithine Transcarbamylase Deficiency
Open access status: An open access version is available from UCL Discovery
DOI: 10.3390/life12111721
Publisher version: https://doi.org/10.3390/life12111721
Language: English
Additional information: This is an open access article distributed under the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Keywords: ornithine transcarbamylase deficiency; hyperammonaemia; neonatal-onset; late-onset; asymptomatic; protein restriction; ammonia scavengers; liver transplantation
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
URI: https://discovery.ucl.ac.uk/id/eprint/10158479
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