Scopus
🔓 Açık Erişim YÖKSİS Eşleşti
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency
Life · Kasım 2022
YÖKSİS Kayıtları
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency
Life-Basel · 2022 SCI-Expanded
DOKTOR ÖĞRETİM ÜYESİ BANU KADIOĞLU YILMAZ →
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency
LIFE-BASEL · 2022 SCI
DOKTOR ÖĞRETİM ÜYESİ BANU KADIOĞLU YILMAZ →
Makale Bilgileri
DergiLife
Yayın TarihiKasım 2022
Cilt / Sayfa12
Scopus ID2-s2.0-85141775672
Erişim🔓 Açık Erişim
Özet
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.
Yazarlar (44)
1
Berna Seker Yilmaz
ORCID: 0000-0003-0425-0341
2
Julien Baruteau
ORCID: 0000-0003-0582-540X
3
Nur Arslan
ORCID: 0000-0003-3151-3741
4
Halil Ibrahim Aydin
5
Magalie Barth
6
Ayse Ergul Bozaci
ORCID: 0000-0002-9783-1016
7
Anais Brassier
8
Ebru Canda
9
Aline Cano
10
Efstathia Chronopoulou
11
Grainne M. Connolly
12
Lena Damaj
13
Charlotte Dawson
14
Dries Dobbelaere
15
Claire Douillard
16
Fatma Tuba Eminoglu
17
Sahin Erdol
18
Melike Ersoy
19
Sherry Fang
20
François Feillet
21
Gulden Gokcay
22
Emine Goksoy
23
Magali Gorce
24
Asli Inci
25
Banu Kadıoğlu Yılmaz
26
Fatih Kardaş
27
Cigdem Seher Kasapkara
28
Gonca Kilic Yildirim
ORCID: 0000-0001-6769-667X
29
Deniz Kor
ORCID: 0000-0001-7659-0500
30
Melis Kose
31
Cecilia Marelli
ORCID: 0000-0002-9543-6311
32
Helen Mundy
33
Siobhan O’Sullivan
34
Burcu Ozturk Hismi
35
Radha Ramachandran
36
Agathe Roubertie
37
Mehtap Sanlilar
38
Manuel Schiff
39
Srividya Sreekantam
40
Karolina M. Stepien
ORCID: 0000-0003-0148-6332
41
Ozlem Uzun Unal
42
Yilmaz Yildiz
ORCID: 0000-0001-9076-1388
43
Tanyel Zubarioglu
44
Paul Gissen
ORCID: 0000-0002-9712-6122
Anahtar Kelimeler
ammonia scavengers
asymptomatic
hyperammonaemia
late-onset
liver transplantation
neonatal-onset
ornithine transcarbamylase deficiency
protein restriction
Kurumlar
Ankara Üniversitesi
Ankara Turkey
Ankara Yildirim Beyazit University
Ankara Turkey
Antalya Training and Research Hospital
Antalya Turkey
Bakidotlessrköy Dr. Sadi Konuk Training and Research Hospital
Istanbul Turkey
Başkent Üniversitesi
Ankara Turkey
Belfast Health and Social Care Trust
Belfast United Kingdom
Birmingham Women’s and Children’s NHS Foundation Trust
Birmingham United Kingdom
Bursa Uludağ Üniversitesi
Bursa Turkey
Cengiz Gokcek State Hospital
Gaziantep Turkey
Centre Hospitalier Universitaire de Montpellier
Montpellier France
CHU Angers
Angers France
Çukurova Üniversitesi Tip Fakültesi
Adana Turkey
Diyarbakir Children's Hospital
Diyarbakir Turkey
Dokuz Eylül Üniversitesi
Izmir Turkey
Ege University Medical School
Izmir Turkey
Erciyes University, Faculty of Medicine
Kayseri Turkey
Eskişehir Osmangazi Üniversitesi Tip Fakültesi
Eskisehir Turkey
Evelina London Children's Healthcare
London United Kingdom
Gazi University, Faculty of Medicine
Ankara Turkey
Great Ormond Street Hospital for Children NHS Foundation Trust
London United Kingdom
Guy's and St Thomas' NHS Foundation Trust
London United Kingdom
Hacettepe Üniversitesi
Ankara Turkey
Hôpital Brabois Adultes
Vandoeouvre-les-Nancy France
Hopital des Enfants
Toulouse France
Hopital La Timone
Marseille France
Hôpital Necker Enfants Malades
Paris France
Hopital Sud CHU Rennes
Rennes France
İstanbul Tıp Fakültesi
Istanbul Turkey
İstanbul University-Cerrahpaşa Cerrahpaşa Faculty of Medicine
Istanbul Turkey
İzmir Kâtip Çelebi Üniversitesi
Izmir Turkey
Kocaeli Üniversitesi
İzmit Turkey
Konya City Hospital
Konya Turkey
Maladies RAres du Developpement Embryonnaire et du Metabolisme: du Phénotype au Génotype et à la Fonction (RADEME)
Lille France
Marmara Üniversitesi Tip Fakültesi
Istanbul Turkey
National Institute of Health Research Great Ormond Street Biomedical Research Centre
London United Kingdom
Royal Belfast Hospital for Sick Children
Belfast United Kingdom
Salford Royal NHS Foundation Trust
Salford United Kingdom
UCL Great Ormond Street Institute of Child Health
London United Kingdom
Université de Montpellier
Montpellier France
University Hospitals Birmingham NHS Foundation Trust
Birmingham United Kingdom
University Hospitals Bristol and Weston NHS Foundation Trust
Bristol United Kingdom
Metrikler
7
Atıf
44
Yazar
8
Anahtar Kelime