Results 1 to 10 of about 36,715 (141)

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   +3 more sources

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   +3 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   +3 more sources

Ornithine Transcarbamylase – From Structure to Metabolism: An Update [PDF]

Frontiers in Physiology, 2021
Ornithine transcarbamylase (OTC; EC 2.1.3.3) is a ubiquitous enzyme found in almost all organisms, including vertebrates, microorganisms, and plants. Anabolic, mostly trimeric OTCs catalyze the production of L-citrulline from L-ornithine which is a part ...
Morgane Couchet, Charlotte Breuillard, Christelle Corne, John Rendu, Béatrice Morio, Uwe Schlattner, Uwe Schlattner, Christophe Moinard   +7 more
doaj   +3 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   +3 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   +3 more sources

Restoring ornithine transcarbamylase (OTC) activity in an OTC‐deficient mouse model using LUNAR‐OTC mRNA

Clinical and Translational Discovery, 2022
Ornithine transcarbamylase (OTC) catalyses the reaction from ornithine to citrulline in the urea cycle. Ornithine transcarbamylase deficiency (OTCD) results in episodes of hyperammonemia.
Hailong Yu, Edward Brewer, Michael Shields, Michael Crowder, Cristiano Sacchetti, Benchawanna Soontornniyomkij, Dandan Dou, Brenda Clemente, Marciano Sablad, Padmanabh Chivukula, Steve Hughes, Scott Roberts, Kumar Rajappan, Steve Tannis, Rose Sekulovich, Suezanne Parker, Pattraranee Limphong   +16 more
doaj   +2 more sources

Lipid nanoparticle-targeted mRNA formulation as a treatment for ornithine-transcarbamylase deficiency model mice. [PDF]

Mol Ther Nucleic Acids, 2023
Ornithine transcarbamylase (OTC) plays a significant role in the urea cycle, a metabolic pathway functioning in the liver to detoxify ammonia. OTC deficiency (OTCD) is the most prevalent urea cycle disorder.
Yamazaki K, Kubara K, Ishii S, Kondo K, Suzuki Y, Miyazaki T, Mitsuhashi K, Ito M, Tsukahara K.   +8 more
europepmc   +2 more sources

Corticosteroid suppresses urea-cycle-related gene expressions in ornithine transcarbamylase deficiency

BMC Gastroenterology, 2022
Background Ornithine transcarbamylase deficiency (OTCD) is most common among urea cycle disorders (UCDs), defined by defects in enzymes associated with ureagenesis.
Koji Imoto, Masatake Tanaka, Takeshi Goya, Tomomi Aoyagi, Motoi Takahashi, Miho Kurokawa, Shigeki Tashiro, Masaki Kato, Motoyuki Kohjima, Yoshihiro Ogawa   +9 more
doaj   +2 more sources

Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations

Case Reports in Women's Health, 2022
Background: Ornithine transcarbamylase deficiency (OTCD) is a rare disorder of the urea cycle that obstetricians should be aware of in order to guide management for pregnant carriers of the X-linked gene that causes the condition.
Gabriella Pinho, Gabriela Ross, Kaila Krishnamoorthy, Christina Kresge, Ling Yu Shih, Joseph J. Apuzzio, Shauna F. Williams   +6 more
doaj   +2 more sources