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https://www.readbyqxmd.com/read/29773863/low-prevalence-of-argininosuccinate-lyase-deficiency-among-inherited-urea-cycle-disorders-in-korea
#1
Dahye Kim, Jung Min Ko, Yoon-Myung Kim, Go Hun Seo, Gu-Hwan Kim, Beom Hee Lee, Han-Wook Yoo
Argininosuccinic aciduria (ASA), which is considered to be the second most common urea cycle disorder (UCD), is caused by an argininosuccinate lyase deficiency and is biochemically characterized by elevation of argininosuccinic acid and arginine deficiency. In addition to hyperammonemia, other characteristic features of ASA include hepatic fibrosis, hypertension, neurocognitive deficiencies, and trichorrhexis nodosa. Herein, we retrospectively reviewed the clinical findings, biochemical profiles, and genotypic characteristics of five Korean patients with ASA, who showed typical phenotypes and biochemical findings of the disease...
May 17, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29770819/a-porous-hierarchical-micro-nano-lini-0-5-mn-1-5-o-4-cathode-material-for-li-ion-batteries-synthesized-by-a-urea-assisted-hydrothermal-method
#2
Jiangfeng Wang, Xing Qin, Jianling Guo, Mushang Zhou, Bo Zong, Li Wang, Guangchuan Liang
A spinel LiNi0.5Mn1.5O4 cathode material was synthesized by a urea-assisted hydrothermal method followed by high-temperature calcination with a lithium source. The effects of the molar ratio of urea to transition metal ions (U/TM ratio) on the structure, morphology and electrochemical properties of the carbonate precursor and LiNi0.5Mn1.5O4 product were systematically investigated. The as-synthesized samples were characterized by XRD, FT-IR, SEM, TEM, a constant-current charge/discharge test, CV and EIS. XRD and FT-IR results show that the LiNi0...
May 17, 2018: Dalton Transactions: An International Journal of Inorganic Chemistry
https://www.readbyqxmd.com/read/29769109/valproate-induced-hyperammonemia-uncovering-an-underlying-inherited-metabolic-disorder-a-case-report
#3
Shaine Mehta, Sarrah Tayabali, Robin Lachmann
BACKGROUND: Sodium valproate is a commonly used anticonvulsant. It is widely recognized that valproate can cause hyperammonemia, particularly in people with underlying liver disease. Patients with urea cycle disorders are genetically predisposed to this adverse event and can develop severe hyperammonemia if given valproate. This can occur even if liver functions tests and plasma concentration of valproate are normal, highlighting the importance of checking ammonia levels in any patient presenting with encephalopathy...
May 17, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29768370/a-case-report-of-neurological-complications-owing-to-lately-diagnosed-hyperargininemia-emphasizing-the-role-of-national-neonatal-screening-policies-in-the-kingdom-of-bahrain
#4
Moiz Bakhiet, Aminah M I AlAwadi, Maryam M AlHammadi, Maryam F Ali, Noora Butti
INTRODUCTION: Arginine is an essential amino acid that plays an important role in various body functions including cell division, wound healing, removal of ammonia, immune function, and release of hormones. Hyperargininemia, an autosomal recessive genetic disorder, is considered one of the least common urea cycle disorders. It rarely presents in the neonatal period but rather appears in children at the age between 2 and 4 years. CASE PRESENTATION: Herein, we demonstrate a case of a 14-year-old female who presented to the neurology clinic with several neurological complications, which were found to be a consequence of high levels of arginine discovered after performing a metabolic screening test...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29755574/branched-chain-amino-acids-in-health-and-disease-metabolism-alterations-in-blood-plasma-and-as-supplements
#5
REVIEW
Milan Holeček
Branched-chain amino acids (BCAAs; valine, leucine, and isoleucine) are essential amino acids with protein anabolic properties, which have been studied in a number of muscle wasting disorders for more than 50 years. However, until today, there is no consensus regarding their therapeutic effectiveness. In the article is demonstrated that the crucial roles in BCAA metabolism play: (i) skeletal muscle as the initial site of BCAA catabolism accompanied with the release of alanine and glutamine to the blood; (ii) activity of branched-chain keto acid dehydrogenase (BCKD); and (iii) amination of branched-chain keto acids (BCKAs) to BCAAs...
2018: Nutrition & Metabolism
https://www.readbyqxmd.com/read/29754953/arginase-2-suppresses-renal-carcinoma-progression-via-biosynthetic-cofactor-pyridoxal-phosphate-depletion-and-increased-polyamine-toxicity
#6
Joshua D Ochocki, Sanika Khare, Markus Hess, Daniel Ackerman, Bo Qiu, Jennie I Daisak, Andrew J Worth, Nan Lin, Pearl Lee, Hong Xie, Bo Li, Bradley Wubbenhorst, Tobi G Maguire, Katherine L Nathanson, James C Alwine, Ian A Blair, Itzhak Nissim, Brian Keith, M Celeste Simon
Kidney cancer, one of the ten most prevalent malignancies in the world, has exhibited increased incidence over the last decade. The most common subtype is "clear cell" renal cell carcinoma (ccRCC), which features consistent metabolic abnormalities, such as highly elevated glycogen and lipid deposition. By integrating metabolomics, genomic, and transcriptomic data, we determined that enzymes in multiple metabolic pathways are universally depleted in human ccRCC tumors, which are otherwise genetically heterogeneous...
May 4, 2018: Cell Metabolism
https://www.readbyqxmd.com/read/29751839/metabolic-reprogramming-of-the-urea-cycle-pathway-in-experimental-pulmonary-arterial-hypertension-rats-induced-by-monocrotaline
#7
Hai-Kuo Zheng, Jun-Han Zhao, Yi Yan, Tian-Yu Lian, Jue Ye, Xiao-Jian Wang, Zhe Wang, Zhi-Cheng Jing, Yang-Yang He, Ping Yang
BACKGROUND: Pulmonary arterial hypertension (PAH) is a rare systemic disorder associated with considerable metabolic dysfunction. Although enormous metabolomic studies on PAH have been emerging, research remains lacking on metabolic reprogramming in experimental PAH models. We aim to evaluate the metabolic changes in PAH and provide new insight into endogenous metabolic disorders of PAH. METHOD: A single subcutaneous injection of monocrotaline (MCT) (60 mg kg- 1 ) was used for rats to establish PAH model...
May 11, 2018: Respiratory Research
https://www.readbyqxmd.com/read/29729702/blood-metabolism-study-on-protection-of-residual-renal-function-of-hemodialysis-patients-by-traditional-chinese-medicine-kidney-flaccidity-compound
#8
Qiong-Dan Hu, Wei-Hua Wu, Yan Zeng, Ji Wen, Xiao-Jun Li, Wei Pan, Mao-Ping Zhang, Bo Hu, Chun-Yan Lei, Junming Fan
In recent years, metabolomics using high-performance liquid chromatography (UPLC) has been used to study the metabolic profiles in plasma, urine, stool and tissue in animal model of chronic kidney disease (CKD). In the previous work, we found that traditional Chinese medicine (TCM) "Kidney Flaccidity Compound" (KFC) based on "kidney flaccidity theory" can improve renal function and quality of life of patients with kidney disease. This study aimed to investigate the metabolic profiles in peripheral blood of hemodialysis patients administrated by KFC for 1...
April 30, 2018: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/29726057/mutations-and-common-variants-in-the-human-arginase-1-arg1-gene-impact-on-patients-diagnostic-and-protein-structure-considerations
#9
Carmen Diez-Fernandez, Véronique Rüfenacht, Corinne Gemperle, Ralph Fingerhut, Johannes Häberle
The urea cycle disorder argininemia is caused by a defective arginase 1 (ARG1) enzyme resulting from mutations in the ARG1 gene. Patients generally develop hyperargininemia, spastic paraparesis, progressive neurological and intellectual impairment and persistent growth retardation. Interestingly, in contrast to other urea cycle disorders, hyperammonemia is rare. We report here 66 mutations (12 of which are novel), including 30 missense mutations, 7 nonsense, 10 splicing, 15 deletions, two duplications, one small insertion and one translation initiation codon mutation...
May 3, 2018: Human Mutation
https://www.readbyqxmd.com/read/29724658/human-hepatocyte-transplantation-corrects-the-inherited-metabolic-liver-disorder-arginase-deficiency-in-mice
#10
Stephanie A K Angarita, Brian Truong, Suhail Khoja, Matthew Nitzahn, Abha K Rajbhandari, Irina Zhuravka, Sergio Duarte, Michael G Lin, Alex K Lam, Stephen D Cederbaum, Gerald S Lipshutz
The transplantation, engraftment, and expansion of primary hepatocytes have the potential to be an effective therapy for metabolic disorders of the liver including those of nitrogen metabolism. To date, such methods for the treatment of urea cycle disorders in murine models has only been minimally explored. Arginase deficiency, an inherited disorder of nitrogen metabolism that presents in the first two years of life, has the potential to be treated by such methods. To explore the potential of this approach, we mated the conditional arginase deficient mouse with a mouse model deficient in fumarylacetoacetate hydrolase (FAH) and with Rag2 and IL2-Rγ mutations to give a selective advantage to transplanted (normal) human hepatocytes...
April 21, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29722991/pd-ii-catalyzed-cyclization-oxidation-of-urea-tethered-alkylidenecyclopropanes
#11
Leyi Tao, Min Shi
A Pd(OAc)2 -catalyzed intramolecular oxidative cyclization of urea-tethered alkylidenecyclopropanes with urea as a nitrogen source through a Pd(II)/Pd(IV) catalytic cycle has been presented, giving the corresponding cyclobuta[ b]indoline derivatives in moderate to good yields with a broad substrate scope. The reaction proceeds through a ring expansion of alkylidenecyclopropane along with the nucleophilic attack of nitrogen atom onto the in situ generated palladium carbenoid species as well as an oxidation process...
May 3, 2018: Organic Letters
https://www.readbyqxmd.com/read/29719393/biological-responses-to-core-shell-structured-fe-3-o-4-sio-2-nh-2-nanoparticles-in-rats-by-a-nuclear-magnetic-resonance-based-metabonomic-strategy
#12
Zhongxue Yuan, Rui Xu, Jinquan Li, Yueli Chen, Binghui Wu, Jianghua Feng, Zhong Chen
Background: Core-shell-structured nanoparticles (NPs) have attracted much scientific attention due to their promising potential in biomedical fields in recent years. However, their underlying mechanisms of action and potential adverse effects following administration remain unknown. Methods: In the present study, a 1 H nuclear magnetic resonance-based metabonomic strategy was applied to investigate the metabolic consequences in rats following the intravenous administration of parent NPs of core-shell-structured nanoparticles, Fe3 O4 @SiO2 -NH2 (Fe@Si) NPs...
2018: International Journal of Nanomedicine
https://www.readbyqxmd.com/read/29715667/development-of-chemically-activated-n-enriched-carbon-adsorbents-from-urea-formaldehyde-resin-for-co-2-adsorption-kinetics-isotherm-and-thermodynamics
#13
Deepak Tiwari, Haripada Bhunia, Pramod K Bajpai
Nitrogen enriched carbon adsorbents with high surface areas were successfully prepared by carbonizing the low-cost urea formaldehyde resin, followed by KOH activation. Different characterization techniques were used to determine the structure and surface functional groups. Maximum surface area and total pore volume of 4547 m2  g-1 and 4.50 cm3  g-1 were found by controlling activation conditions. The optimized sample denoted as UFA-3-973 possesses a remarkable surface area, which is found to be one of the best surface areas achieved so far...
April 28, 2018: Journal of Environmental Management
https://www.readbyqxmd.com/read/29713581/bioconversion-of-acrylonitrile-using-nitrile-hydratase-activity-of-bacillus-sp-apb-6
#14
Rajendra Singh, Deepak Pandey, Shilpa Dhariwal, Priyanka Sood, Duni Chand
Bacillus sp. APB-6 harboring nitrile hydratase was used in the production of acrylamide from acrylonitrile. Bacillus sp. APB-6, for maximum production of Co++ containing nitrile hydratase, was cultured in the medium containing lactose (18.0 g l-1 ), peptone (1.0 g l-1 ), yeast extract (2.0 g l-1 ), MgSO4 (0. 5 g l-1 ), K2 HPO4 (0.6 g l-1 ), urea (9.0 g l-1 ), and CoCl2 (0.01 g l-1 ), pH 7.0, and incubated at 35 °C for 24 h in an incubator shaker (160 rpm). Nitrile hydratase exhibited relatively high specificity for aliphatic nitriles...
May 2018: 3 Biotech
https://www.readbyqxmd.com/read/29705637/hierarchical-magnetic-petal-like-fe-3-o-4-zno-g-c-3-n-4-for-removal-of-sulfamethoxazole-suppression-of-photocorrosion-by-products-identification-and-toxicity-assessment
#15
Amir Mirzaei, Zhi Chen, Fariborz Haghighat, Laleh Yerushalmi
Herein, a petal-like photocatalyst, Fe3 O4 -ZnO@g-C3 N4 (FZG) with different g-C3 N4 to ZnO ratios was synthesized with hierarchical structure. The FZG1 photocatalyst, having the weight ratio of 1:1 for the initial urea and Fe3 O4 -ZnO (Fe-ZnO), presented the highest sulfamethoxazole (SMX) degradation rate of 0.0351 (min-1 ), which was 2.6 times higher than that of pristine ZnO. Besides the facile separation, the performance of photocatalyst was improved due to the function of iron oxide as an electron acceptor that reduced the electron/hole recombination rate...
April 21, 2018: Chemosphere
https://www.readbyqxmd.com/read/29703588/newborn-screening-for-proximal-urea-cycle-disorders-current-evidence-supporting-recommendations-for-newborn-screening
#16
J Lawrence Merritt, Linnea L Brody, Gisele Pino, Piero Rinaldo
Current newborn screening (NBS) for urea cycle disorders (UCD) is incomplete as only distal UCDs are included in most NBS programs by measuring elevated amino acid concentrations. NBS for the proximal UCDs involves the detection in NBS spots of low citrulline values, a finding which is often overlooked because it is considered to be inadequate. We retrospectively analyzed NBS blood spots from known UCD patients comparing the utility of the Region 4 Stork (R4S) interpretive tools to conventional cutoff based interpretation...
April 20, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29698924/integrative-metabolomics-and-transcriptomics-signatures-of-clinical-tolerance-to-plasmodium-vivax-reveal-activation-of-innate-cell-immunity-and-t-cell-signaling
#17
Luiz G Gardinassi, Myriam Arévalo-Herrera, Sócrates Herrera, Regina J Cordy, ViLinh Tran, Matthew R Smith, Michelle S Johnson, Balu Chacko, Ken H Liu, Victor M Darley-Usmar, Young-Mi Go, Dean P Jones, Mary R Galinski, Shuzhao Li
Almost invariably, humans become ill during primary infections with malaria parasites which is a pathology associated with oxidative stress and perturbations in metabolism. Importantly, repetitive exposure to Plasmodium results in asymptomatic infections, which is a condition defined as clinical tolerance. Integration of transcriptomics and metabolomics data provides a powerful way to investigate complex disease processes involving oxidative stress, energy metabolism and immune cell activation. We used metabolomics and transcriptomics to investigate the different clinical outcomes in a P...
April 11, 2018: Redox Biology
https://www.readbyqxmd.com/read/29697053/porous-mn-doped-cobalt-oxide-c-nanocomposite-a-stable-anode-material-for-li-ion-rechargeable-batteries
#18
Ramchandra S Kalubarme, Sarika M Jadhav, Bharat Kale, Suresh W Gosavi, Chiaki Terashima, Akira Fujishima
Cobalt oxide, is well-studied transition metal oxide, as an electrode material for energy storage application especially in supercapacitors and rechargeable batteries, due to its high charge storage ability. However, it suffers from low conductivity which effectively hamper long-term stability. In the present work, a simple strategy to enhance the conductivity of cobalt oxide is adopted to achieve stable electrochemical performance by means of carbon coating and Mn doping, via simple and controlled, urea assisted glycine-nitrate combustion process...
April 26, 2018: Nanotechnology
https://www.readbyqxmd.com/read/29695388/hypomorphic-citrullinaemia-due-to-mutated-ass1-with-episodic-ataxia
#19
Arushi Gahlot Saini, Savita Attri, N Sankhyan, Pratibha Singhi
Children with citrullinaemia commonly present in the neonatal period with life-threatening hyperammonaemia and progressive encephalopathy. Less often, 'hypomorphic' or mild late-onset childhood or adult-onset forms may be seen with intermittent neurological symptoms or acute crisis in pregnancy. We describe an 11-year-old boy with late-onset citrullinaemia manifesting as brief episodes of ataxia triggered by minor febrile illnesses, significant citrullinaemia, mild hyperammonaemia, normal neurological examination and mild cerebellar atrophy...
April 25, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29693650/a-randomized-trial-to-study-the-comparative-efficacy-of-phenylbutyrate-and-benzoate-on-nitrogen-excretion-and-ureagenesis-in-healthy-volunteers
#20
Sandesh C S Nagamani, Umang Agarwal, Allison Tam, Mahshid Azamian, Ann McMeans, Inka C Didelija, Mahmoud A Mohammad, Juan C Marini
PurposeBenzoate and phenylbutyrate are widely used in the treatment of urea cycle disorders, but detailed studies on pharmacokinetics and comparative efficacy on nitrogen excretion are lacking.MethodsWe conducted a randomized, three-arm, crossover trial in healthy volunteers to study pharmacokinetics and comparative efficacy of phenylbutyrate (NaPB; 7.15 g•m-2 BSA•day-1 ), benzoate (NaBz; 5.5 g•m-2 BSA•day-1 ), and a combination of two medications (MIX arm; 3.575 g NaPB and 2.75 g NaBz•m-2 BSA•day-1 ) on nitrogen excretion...
October 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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