Results 21 to 30 of about 23,446 (182)

A Case of Hyperargininaemia Presenting at Unusually Low Age [PDF]

Journal of Clinical and Diagnostic Research, 2017
Arginase or ARG1 gene deficiency is a Type V Urea Cycle Disorder (UCD) (catalysing the fifth reaction of urea cycle), associated with hyperammonaemia.
Vanita Lal, Daisy Khera, Garima Gupta, Kuldeep Singh, Praveen Sharma   +4 more
doaj   +1 more source

Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation

Hematology, 2023
Hyperammonemia is a rare and often fatal complication following the conditioning therapy in autologous and allogeneic stem cell transplant recipients. It is characterized by anorexia, vomiting, lethargy and coma without any other apparent cause.
Galina Tsykunova, Erle Kristensen, Asbjørg Stray-Pedersen, Øyvind Bruserud, Ida Wiig Sørensen, Øystein Bruserud, Tor Henrik Anderson Tvedt   +6 more
doaj   +1 more source

Management of late onset urea cycle disorders—a remaining challenge for the intensivist?

Annals of Intensive Care, 2021
Background Hyperammonemia caused by a disorder of the urea cycle is a rare cause of metabolic encephalopathy that may be underdiagnosed by the adult intensivists because of its rarity.
S. Redant, A. Empain, A. Mugisha, P. Kamgang, R. Attou, P. M. Honoré, D. De Bels   +6 more
doaj   +1 more source

Ornithine Transcarbamylase – From Structure to Metabolism: An Update

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   +1 more source

Ornithine Transcarbamylase Deficiency in Iranian Children [PDF]

Iranian Journal of Public Health, 2003
Ammonia is a toxic material for mammalians. It is detoxificated and converted to urea in the urea cycle in liver. Each defect in the urea cycle cause increase in blood ammonia level.
HR Joshaghani, M Jalali, T Zaman   +2 more
doaj   +1 more source

Hyperammonemia of unknown cause in a young postpartum woman: a case report

Journal of Medical Case Reports, 2022
Background Hyperammonemia is a medical condition described as increased or elevated serum ammonia levels. High serum levels of ammonia can cause neurotoxicity. Sudden onset severe hyperammonemia may cause severe encephalopathy with brain damage.
Sadaf Hanif, Sher Muhammad Sethi
doaj   +1 more source

Rare Adult-onset Citrullinemia Type 1 in the Postpartum Period: A Case Report

Clinical Practice and Cases in Emergency Medicine, 2023
Introduction: Citrullinemia type 1 (CTLN1) is a urea cycle disorder caused by defective argininosuccinate synthetase leading to impaired ammonia elimination.
Michael Borsuk, Mathew Saab, Michael Tobin   +2 more
doaj   +1 more source

Hepatic Manifestations of Urea Cycle Disorders [PDF]

Clinical Liver Disease, 2021
Content available: Author Interview and Audio Recording.
Alanna, Strong, Jessica, Gold, Nina B, Gold, Marc, Yudkoff   +3 more
openaire   +2 more sources

Nonhepatic hyperammonemic encephalopathy complications following bariatric surgery: a case report and review of the literature

Journal of Medical Case Reports, 2021
Background Hyperammonemic encephalopathy, a rare but fatal condition, is increasingly being reported as a possible complication of bariatric surgery.
Nuphar Vinegrad, Orna Staretz-Chacham, Leonid Barski, Carmi Bartal   +3 more
doaj   +1 more source

Correction of a urea cycle defect after ex vivo gene editing of human hepatocytes [PDF]

, 2021
Ornithine transcarbamylase deficiency (OTCD) is a monogenic disease of ammonia metabolism in hepatocytes. Severe disease is frequently treated by orthotopic liver transplantation.
Allegri, Gabriella, Zabulica, Mihaela, Firth, Mike, Häberle, Johannes; https://orcid.org/, Strom, Stephen C, Engberg, Susanna, Rimann, Nicole, Rosen, Barry, Jorns, Carl, Jakobsson, Tomas, Hammarstedt, Christina, Akcakaya, Pinar, Maresca, Marcello, Gramignoli, Roberto, Thöny, Beat, Strom, Stephen C., van Zuydam, Natalie R, Bestas, Burcu, Forslöw, Anna, Ellis, Ewa, Scherer, Tanja, van Zuydam, Natalie R., Makris, Georgios, Häberle, Johannes, Srinivasan, Raghuraman C., Srinivasan, Raghuraman C, Jakobsson, Towe, Rooyackers, Olav   +27 more
core   +1 more source