Results 51 to 60 of about 51,297 (232)

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

Generation of a human induced pluripotent stem cell line (SDQLCHi036-A) from a patient with ornithine transcarbamylase deficiency carrying a deletion involving 3–9 exons of OTC gene

Stem Cell Research, 2021
Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked urea cycle disorder. Maternal OTCD can lead to life-threatening hyperammonemia if untreated.
Jingyun Guan, Beibei Yan, Haiyan Zhang, Chen Liu, Yue Li, Xiaomeng Yang, Zilong Li, Zhongtao Gai, Yi Liu   +8 more
doaj   +1 more source

Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency

Molecular Genetics and Metabolism Reports, 2022
We report on a family with ornithine transcarbamylase (OTC) deficiency, an X-linked urea cycle disorder, with variable disease severity and tailored management strategies based on each family member's biochemical profile and clinical presentation.
Joshua Baker, Lauren Hitchins, Erika Vucko, Kirsten Havens, Karen Becker, Katherine Arduini   +5 more
doaj   +1 more source

The genetic structure of mouse ornithine transcarbamylase [PDF]

Nucleic Acids Research, 1988
The gene encoding the mouse urea cycle enzyme, ornithine transcarbamylase has been isolated on five partially overlapping bacteriophage lambda clones. We have characterized the gene and found that it is split between ten exons distributed over approximately 70 kb of the X chromosome.
S E, Scherer, G, Veres, C T, Caskey
openaire   +2 more sources

Measuring Blood Plasma Glutamine Levels Using a Nanopore‐Based Sensor

Advanced Healthcare Materials, EarlyView.
Glutamine (GLN) is a biomarker useful for predicting toxic ammonia accumulation. Here, we used a biosensor based on the Cytolysin A (ClyA) nanopore coupled with the GLN‐specific protein substrate‐binding domain 2 (SBD2) to demonstrate real‐time measurement of GLN in blood plasma, highlighting the potential for future point‐of‐care applications ...
Sofia B. Relvas, Iris M. Kormelink, Sandra Michel‐Souzy, Florian L. R. Lucas, Nieck J. van der Heide, Hans R. Waterham, Ramon Versteeg, Judith Jans, Loes I. Segerink, Carsten Wloka   +9 more
wiley   +1 more source

Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet

, 2010
Late-onset symptoms of urea-cycle disorder may lead to a life-threatening disease which is often undetected. We report the clinical and metabolic manifestations of acute hyperammonemic encephalopathy in a 47-year-old asymptomatic man with ornithine ...
Tessler, Debora, Dalal, Adam, Largiader, Carlo R, Ben-Ari, Ziv, Galili-Mosberg, Ronit, Morry, Ady, Pitlik, Silvio, Cohen, Jonathan, Fattal, Ittai, Nuoffer, Jean-Marc, Zinger, Pierre, Baruch, Ruth Gershoni, Mandel, Hanna, Largiadèr, Carlo Rodolfo   +13 more
core   +1 more source

Enzymes Involved in the Biosynthesis of Arginine from Ornithine in Maritime Pine (Pinus pinaster Ait.)

Plants, 2020
The amino acids arginine and ornithine are the precursors of a wide range of nitrogenous compounds in all living organisms. The metabolic conversion of ornithine into arginine is catalyzed by the sequential activities of the enzymes ornithine ...
José Alberto Urbano-Gámez, Jorge El-Azaz, Concepción Ávila, Fernando N. de la Torre, Francisco M. Cánovas   +4 more
doaj   +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

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

Ornithine transcarbamylase downregulation is associated with poor prognosis in hepatocellular carcinoma

Oncology Letters, 2019
Hepatocellular carcinoma (HCC) is one of the leading causes of cancer-associated mortalities worldwide. The role of ornithine transcarbamylase (OTC) in HCC remains unclear. In the present study, the expression of OTC in HCC was analyzed based on datasets
Lin He, Xue-fei Cai, Sheng-Tao Cheng, Hongzhong Zhou, Zhen-Zhen Zhang, Ji-Hua Ren, Fang Ren, Qiu-Xia Yang, Na-Na Tao, Juan Chen   +9 more
semanticscholar   +1 more source