Results 41 to 50 of about 3,709 (187)

Perinatal Gene Transfer to the Liver

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Ward, N.J., Buckley, S.M.K., Ward, NJ, Chan, J.K.Y., Waddington, S.N., Rahim, A.A., Waddington, SN, Rahim, AA, Chan, JK, Mckay, T.R., Howe, S.J., Howe, SJ, McKay, TR   +13 more
core   +1 more source

Successful management of a neonate with OTC deficiency presenting with hyperammonemia and severe cardiac dysfunction with extracorporeal membrane oxygenation support and continuous renal replacement therapy

JIMD Reports, 2020
Ornithine transcarbamylase (OTC) deficiency is an X‐linked urea cycle disorder which—in severe form—results in rapid accumulation of ammonia and glutamine with subsequent irreversible brain injury. We present a case of severe left ventricular dysfunction
Adrian C. Mattke, Fumiaki Shikata, James McGill, Rob Justo, Prem Venugopal   +4 more
doaj   +1 more source

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   +1 more source

Undiagnosed Partial Ornithine Transcarbamylase Deficiency Presenting Postoperatively as Agitated Delirium

, 2017
Partial ornithine transcarbamylase deficiency (pOTCD), an enzymatic defect within the urea cycle, is an increasingly recognized etiology for hyperammonemia of unclear source following a stressor within female adults.
R. Cannistraro, P. S. Atwal, E. D. Goldstein, J. F. Meschia   +3 more
core   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Ornithine transcarbamylase deficiency: A possible risk factor for thrombosis

, 2009
Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle defect. Thromboembolic complications have not heretofore been linked with this diagnosis.
Lakshmi Venkateswaran, Scaglia, Fernando, Shchelochkov, Oleg A., Karpen, Saul, Hertel, Paula, Mahoney, Donald Jr, Oleg A. Shchelochkov, Donald L. Yee, Mclin, Valérie Anne, Saul Karpen, Fernando Scaglia, Paula Hertel, Donald Mahoney, Valerie McLin, Yee, Donald L., Venkateswaran, Lakshmi   +15 more
core   +1 more source

An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient. [PDF]

, 2006
We report a male patient with a history of recurrent idiopathic vomiting, normal plasma ammonia and glutamine concentrations in acute phase, who died at 3 years of age.
Di Palma A, Burlina AP, Sperli D, D. Sperlì, A. P. Burlina, Morrone, Amelia, A. Peduto, A. B. Burlina, A. Morrone, Bellizzi A, BURLINA A, Morrone A, A. Bellizzi, A. Di Palma, Peduto A   +14 more
core   +1 more source

Ornithine transcarbamylase deficiency: neonatal diagnostic

Jornal de Pediatria, 1999
OBJECTIVE: To drive pediatrician's attention to a urea cycle enzyme deficiency. The prognosis is directly related to the early diagnosis and treatment. METHODS: We describe a newborn patient who present lethargy, vomitus and seizures 48 hours afther birth. We investigated this patient and the diagnosis of ornithine transcarbamylase deficiency was made.
C A, Ulhôa, C T, Barrett
openaire   +2 more sources

Osmotic Demyelination Syndrome as a Consequence of Treating Hyperammonemia in a Patient With Ornithine Transcarbamylase Deficiency

, 2009
A 7-year-old female patient with a new diagnosis of ornithine transcarbamylase deficiency was treated for hyperammonemia with a standard protocol. Several days later, she developed ataxia, dysmetria, and dysarthria.
Bodensteiner, John B., Cardenas, Javier F.   +1 more
core   +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