Seker Yilmaz Berna, Baruteau Julien, Arslan Nur, Aydin Halil Ibrahim, Barth Magalie, Bozaci Ayse Ergul, Brassier Anais, Canda Ebru, Cano Aline, Chronopoulou Efstathia, Connolly Grainne M, Damaj Lena, Dawson Charlotte, Dobbelaere Dries, Douillard Claire, Eminoglu Fatma Tuba, Erdol Sahin, Ersoy Melike, Fang Sherry, Feillet François, Gokcay Gulden, Goksoy Emine, Gorce Magali, Inci Asli, Kadioglu Banu, Kardas Fatih, Kasapkara Cigdem Seher, Kilic Yildirim Gonca, Kor Deniz, Kose Melis, Marelli Cecilia, Mundy Helen, O'Sullivan Siobhan, Ozturk Hismi Burcu, Ramachandran Radha, Roubertie Agathe, Sanlilar Mehtap, Schiff Manuel, Sreekantam Srividya, Stepien Karolina M, Uzun Unal Ozlem, Yildiz Yilmaz, Zubarioglu Tanyel, Gissen Paul
Genetics and Genomic Medicine Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
National Institute of Health Research Great Ormond Street Biomedical Research Centre, London WC1N 1EH, UK.
Life (Basel). 2022 Oct 27;12(11):1721. doi: 10.3390/life12111721.
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.
X连锁鸟氨酸转氨甲酰酶缺乏症（OTCD）是最常见的尿素循环缺陷病。疾病严重程度从无症状携带者状态到伴有高氨血症性脑病的严重新生儿表现不等。我们通过一项在线12题调查问卷对OTCD的诊断和管理情况进行了审核，该问卷发送给了土耳其、法国和英国的75个代谢中心。39个中心做出了回应，共报告了495例患者。共报告了208例法国患者，其中男性71例（34%），有症状的女性86例（41%），无症状的女性51例（25%）。85例土耳其患者中，男性32例（38%），有症状的女性39例（46%），无症状的女性14例（16%）。在202例英国患者中，男性66例（33%），无症状的女性83例（41%），有症状的女性53例（26%）。在法国、土耳其和英国分别有19%、12%和7%的患者表现为新生儿发病表型。呕吐、精神状态改变和脑病是所有三个国家最常见的初始症状。法国69%和土耳其79%的患者接受蛋白质限制，而英国42%的患者采用蛋白质限制饮食。在土耳其、法国和英国分别有76%、47%和33%的患者接受了氨清除剂治疗。我们审核的结果强调了三个国家在临床表现和管理实践方面的差异和相似之处。
