Results 1 to 10 of about 3,147 (160)

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency [PDF]

Life, 2022
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.
Berna Seker Yilmaz, Julien Baruteau, Nur Arslan, Halil Ibrahim Aydin, Magalie Barth, Ayse Ergul Bozaci, Anais Brassier, Ebru Canda, Aline Cano, Efstathia Chronopoulou, Grainne M. Connolly, Lena Damaj, Charlotte Dawson, Dries Dobbelaere, Claire Douillard, Fatma Tuba Eminoglu, Sahin Erdol, Melike Ersoy, Sherry Fang, François Feillet, Gulden Gokcay, Emine Goksoy, Magali Gorce, Asli Inci, Banu Kadioglu, Fatih Kardas, Cigdem Seher Kasapkara, Gonca Kilic Yildirim, Deniz Kor, Melis Kose, Cecilia Marelli, Helen Mundy, Siobhan O’Sullivan, Burcu Ozturk Hismi, Radha Ramachandran, Agathe Roubertie, Mehtap Sanlilar, Manuel Schiff, Srividya Sreekantam, Karolina M. Stepien, Ozlem Uzun Unal, Yilmaz Yildiz, Tanyel Zubarioglu, Paul Gissen   +43 more
doaj   +16 more sources

Antepartum Ornithine Transcarbamylase Deficiency [PDF]

Case Reports in Gastroenterology, 2014
Ornithine transcarbamylase deficiency (OTCD) is the most common type urea cycle enzyme deficiencies. This syndrome results from a deficiency of the mitochondrial enzyme ornithine transcarbamylase, which catalyzes the conversion of ornithine and carbamoyl
Hitoshi Nakajima, Yosuke Sasaki, Tadashi Maeda, Masako Takeda, Noriko Hara, Kazushige Nakanishi, Yoshihisa Urita, Risa Hattori, Ken Miura, Tomoko Taniguchi   +9 more
doaj   +3 more sources

Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency [PDF]

Biomedicines, 2023
Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder with high unmet needs, as current dietary and medical treatments may not be sufficient to prevent hyperammonemic episodes, which can cause death or neurological sequelae.
Berna Seker Yilmaz, Paul Gissen
doaj   +2 more sources

Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes [PDF]

Molecular Genetics and Metabolism Reports, 2022
Urea cycle disorders (UCDs) are a group of rare inherited metabolic conditions caused by enzyme deficiency within the hepatic ammonia detoxification pathway.
Annette Feigenbaum
doaj   +2 more sources

Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients [PDF]

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
Two unrelated Chinese male OTCD‐suspected patients harbored an OTC synonymous variant (c.663G>A, p.Lys221Lys) and a novel de novo in‐frame variant (c.756_761dupAGCAGC, p.Ala253_Ala254dup); minigene analysis confirmed the synonymous variant induces exon 6 skipping with 41 amino acid deletion (c.541_663del, p.Glu181_Lys221del).
Qingming Wang, Huimin Xiao, Fang Zhang, Hui Li, Juan Zhao, Haiming Yuan   +5 more
wiley   +2 more sources

Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study [PDF]

Molecular Genetics and Metabolism Reports, 2023
Ornithine transcarbamylase deficiency (OTCD) is an X-linked defect of ureagenesis and the most common urea cycle disorder. Patients present with hyperammonemia causing neurological symptoms, which can lead to coma and death. Liver transplantation (LT) is
Berna Seker Yilmaz, Julien Baruteau, Anupam Chakrapani, Michael Champion, Efstathia Chronopoulou, Lee C. Claridge, Anne Daly, Catherine Davies, James Davison, Anil Dhawan, Stephanie Grunewald, Girish L. Gupte, Nigel Heaton, Hugh Lemonde, Pat McKiernan, Philippa Mills, Andrew A.M. Morris, Helen Mundy, Germaine Pierre, Sanjay Rajwal, Siyamini Sivananthan, Srividya Sreekantam, Karolina M. Stepien, Roshni Vara, Mildrid Yeo, Paul Gissen   +25 more
doaj   +2 more sources

Hyperammonaemic Encephalopathy Caused by Adult-Onset Ornithine Transcarbamylase Deficiency [PDF]

Brain Sciences, 2022
Hyperammonaemic encephalopathy in adults is a rare condition in the absence of liver disease and is associated with a high mortality and risk of permanent neurological deficits.
Bjarke Hammer Niclasen, Maria Therese Schelde-Olesen, Mads Astvad, Anders Løkke, Thomas Krøigård, Helle H. Nielsen   +5 more
doaj   +2 more sources

Adult Onset Ornithine Transcarbamylase Deficiency: A Rare Cause of Psychosis [PDF]

BJPsych Open
Aims Ornithine transcarbamylase (OTC) is an enzyme of the urea cycle catalyzing the condensation of carbamyl phosphate and ornithine to form citrulline. OTC deficiency leads to elevated serum ammonia and presents as different neurological or psychiatric
Hoi Ying Choi
doaj   +2 more sources

Subdural Abscess From Acute Sinusitis in a Patient With Ornithine Transcarbamylase Deficiency [PDF]

Clinical Case Reports
Patients with ornithine transcarbamylase deficiency (OTCD) are at risk for infection‐associated hyperammonemia due to a combination of local ammonia formation by the bacteria themselves and acute metabolic failure, and febrile OTCD patients should be ...
Yuya Ito, Toshihiko Kakiuchi, Fumitaka Yoshioka, Masato Yoshiura   +3 more
doaj   +2 more sources

Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency [PDF]

Children, 2023
Ornithine transcarbamylase deficiency (OTCD) is the most common inherited disorder of the urea cycle and, in general, is transmitted as an X-linked recessive trait.
Majitha Seyed Ibrahim, Jessica I. Gold, Alison Woodall, Berna Seker Yilmaz, Paul Gissen, Karolina M. Stepien   +5 more
doaj   +2 more sources