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Hyperammonemia

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https://www.readbyqxmd.com/read/28210873/inborn-errors-of-metabolism-associated-with-psychosis-literature-review-and-case-control-study-using-exome-data-from-5090-adult-individuals
#1
Yannis J Trakadis, Vanessa Fulginiti, Mark Walterfang
A literature review was conducted, using the computerized "Online Mendelian Inheritance in Man" (OMIM) and PubMed, to identify inborn errors of metabolism (IEM) in which psychosis may be a predominant feature or the initial presenting symptom. Different combinations of the following keywords were searched using OMIM: "psychosis", "schizophrenia", or "hallucinations" and "metabolic", "inborn error of metabolism", "inborn errors of metabolism", "biochemical genetics", or "metabolic genetics". The OMIM search generated 126 OMIM entries, 40 of which were well known IEM...
February 16, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28205048/mild-orotic-aciduria-in-umps-heterozygotes-a-metabolic-finding-without-clinical-consequences
#2
Saskia B Wortmann, Margaret A Chen, Roberto Colombo, Alessandro Pontoglio, Bader Alhaddad, Lorenzo D Botto, Tatiana Yuzyuk, Curtis R Coughlin, Maria Descartes, Stephanie Grűnewald, Bruno Maranda, Philippa B Mills, James Pitt, Catherine Potente, Richard Rodenburg, Leo A J Kluijtmans, Srirangan Sampath, Emil F Pai, Ron A Wevers, George E Tiller
BACKGROUND: Elevated urinary excretion of orotic acid is associated with treatable disorders of the urea cycle and pyrimidine metabolism. Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective treatment. Uridine monophosphate synthase is involved in de novo pyrimidine synthesis. Uridine monophosphate synthase deficiency (or hereditary orotic aciduria), due to biallelic mutations in UMPS, is a rare condition presenting with megaloblastic anemia in the first months of life...
February 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28204913/accumulation-of-alpha-fluoro-beta-alanine-and-fluoro-mono-acetate-in-a-patient-with-5-fluorouracil-associated-hyperammonemia
#3
Yoshitaka Nishikawa, Taro Funakoshi, Takahiro Horimatsu, Shin'ichi Miyamoto, Takeshi Matsubara, Motoko Yanagita, Shunsaku Nakagawa, Atsushi Yonezawa, Kazuo Matsubara, Manabu Muto
PURPOSE: High-dose 5-fluorouracil (5-FU) containing chemotherapy occasionally causes hyperammonemia and can be lethal. However, the mechanism of 5FU-associated hyperammonemia has not been known. The aim of this study was to reveal the pharmacokinetics of 5-FU-associated hyperammonemia in a recurrent colorectal cancer patient with end-stage renal disease (ESRD). METHODS: We experienced a case of hyperammonemia during mFOLFOX6 plus bevacizumab therapy for recurrent colorectal cancer...
February 15, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/28177688/hepato-and-neuro-protective-influences-of-biopropolis-on-thioacetamide-induced-acute-hepatic-encephalopathy-in-rats
#4
Rasha E Mostafa, Abeer A A Salama, Rehab Fawzy Abdel-Rahman, Hanan A Ogaly
Hepatic encephalopathy (HE) is a neuropsychiatric syndrome ultimately occurs as a complication of acute or chronic liver failure; accompanied by hyperammonemia. This study aimed to evaluate the potential of biopropolis as a hepato and neuroprotective agent using thioacetamide (TAA)-induced acute HE in rats as a model. Sixty Wistar rats were divided into five groups: Group 1 (normal control) received only saline and paraffin oil. Group 2 (hepatotoxic control) received TAA (300 mg/kg, once). Groups 3, 4 and 5 received TAA followed by vitamin E (100 mg/kg) and biopropolis (100 and 200 mg/kg), respectively, daily for 30 days...
December 9, 2016: Canadian Journal of Physiology and Pharmacology
https://www.readbyqxmd.com/read/28173647/-analysis-of-newborn-screening-for-galactosemia-and-genotype-phenotype-of-confirmed-galatosemia-cases
#5
R L Yang, F Tong, F Hong, G L Qian, D W Wu, Z Y Zhao
Objective: To investigate the prevalence of galactosemia(GAL), and the characteristics of genotype and phenotype of newborns who were confirmed with GAL in newborn screening in Zhejiang province. Method: The number of all live births, newborn screened infants and all clinical data of confirmed newborns with GAL from October 2013 to March 2015 were retrospectively analyzed by reviewing the data of Zhejiang Province screening center database. And the characteristics of genes and the clinical data of GAL cases who were confirmed by correlative gene test and enzyme activity measurement were analyzed...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28173638/valproate-protein-binding-is-highly-variable-in-icu-patients-and-not-predicted-by-total-serum-concentrations-a-case-series-and-literature-review
#6
Richard R Riker, David J Gagnon, Colman Hatton, Teresa May, David B Seder, Katie Stokem, Gilles L Fraser
STUDY OBJECTIVE: The free fraction of valproate (the pharmacologically active moiety, normally 5-10%) may vary significantly in critically ill patients, but this topic is understudied, with only 4 prior ICU case reports. The objective of this study was to evaluate the range of valproate plasma protein binding in ICU patients. DESIGN: Observational study of consecutive ICU patients. SETTING: Neurocritical and medical critical care services in a non-university academic medical center...
February 7, 2017: Pharmacotherapy
https://www.readbyqxmd.com/read/28165879/resveratrol-prevents-ammonia-induced-mitochondrial-dysfunction-and-cellular-redox-imbalance-in-c6-astroglial-cells
#7
Larissa Daniele Bobermin, Diogo Onofre Souza, Carlos-Alberto Gonçalves, André Quincozes-Santos
BACKGROUND: Resveratrol is a polyphenolic compound that presents several protective effects in the central nervous system, including gliotoxicity associated to hyperammonemia, a key element for the development of hepatic encephalopathy. In this condition, mitochondrial dysfunction leads to a reactive oxygen species (ROS) overproduction, which, in turn, exacerbates mitochondrial failure and causes cellular damage. OBJECTIVE: This study sought to determine whether prevention of mitochondrial dysfunction and the maintenance of cellular redox status by resveratrol contribute to its protective action toward ammonia toxicity...
February 6, 2017: Nutritional Neuroscience
https://www.readbyqxmd.com/read/28165182/a-severe-case-of-hyperinsulinism-due-to-hemizygous-activating-mutation-of-glutamate-dehydrogenase
#8
Mary Barrosse-Antle, Chang Su, Pan Chen, Kara E Boodhansingh, Thomas J Smith, Charles A Stanley, Diva D De León, Changhong Li
Activating mutations in the GLUD1 gene, which encodes glutamate dehydrogenase (GDH), result in the hyperinsulinism-hyperammonemia syndrome. GDH is an allosterically regulated enzyme responsible for amino acid-mediated insulin secretion via the oxidative deamination of glutamate to 2-oxoglutarate, leading to ATP production and insulin release. This study characterizes a novel combination of mutations in GLUD1 found in a neonate who presented on the first day of life with severe hypoglycemia, hyperammonemia, and seizures...
February 6, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28157652/neuroprotective-effect-of-chrysin-on-hyperammonemia-mediated-neuroinflammatory-responses-and-altered-expression-of-astrocytic-protein-in-the-hippocampus
#9
Renuka Mani, Vijayakumar Natesan, Ramakrishnan Arumugam
Neuroinflammation is an innate immune response in the central nervous system (CNS) against metabolic and pathogenic toxic wastes. The main hypothesis implies that a state of hyperammonemia which is accountable for both direct and indirect modification in ammonia metabolism with an elevated production of inflammatory cytokines. This study was constructed to explore the modulating effect of chrysin on rudimentary pathophysiologic mechanisms of ammonium chloride (NH4Cl) mediated neuroinflammation in the experimental hyperammonemic rats...
January 31, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28152637/l-arginine-in-the-treatment-of-valproate-overdose-five-clinical-cases
#10
Verena Schrettl, Norbert Felgenhauer, Christian Rabe, Malkanthi Fernando, Florian Eyer
BACKGROUND: Valproic acid and its metabolites - particularly valproyl-CoA - are inhibitors of the enzyme N-acetylglutamate synthetase. The amino acid l-arginine can stimulate N-acetylglutamate synthetase activity and could be potentially used therapeutically to correct hyperammonemia caused by valproate therapy or overdose. Severely valproic-acid-poisoned patients are usually treated with l-carnitine or hemodialysis in order to decrease hyperammonemia. We herein report of five cases, in which l-arginine was administered...
February 3, 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28149015/role-of-bioflavonoid-quercetin-on-expression-of-urea-cycle-enzymes-astrocytic-and-inflammatory-markers-in-hyperammonemic-rats
#11
Sivamani Kanimozhi, Perumal Subramanian, Sakkaravarthy Shanmugapriya, Subramanian Sathishkumar
This study evaluates the role of quercetin on the expression of urea cycle enzymes, astrocytic, neuronal and inflammatory markers in hyperammonemic rats. Hyperammonemia (provoked by intraperitonial injections of (ammonium chloride-100 mg/kg b.w for 56 days), showed diminished expression of urea cycle enzymes [carbamyl phosphate synthetase-1 (CPS-1), ornithine transcarbamylase (OTC), argininosuccinate synthetase (ASS) and arginase (ARG)] in liver and decreased expression of neuronal and astrocytic markers-glutamine synthase (GS) and phosphate activated glutaminase (PAG) in brain and increased expression of brain inflammatory markers such as interleukin 6 (IL6), inducible nitric oxide synthase (iNOS) and nuclear transcription factor kappa B (NF-κB) (by western blot analysis) and exhibited downregulated expression of soluble guanylate cyclase (sGC), glial fibrillary acidic protein (GFAP) in brain and ASS in liver investigated (by RT-PCR)...
March 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28144602/hyperammonemia-as-a-marker-of-subclinical-seizures-after-traumatic-cardiac-arrest
#12
Patricia Aswani, Michael Kalina
This report details the presence of hyperammonemia in a patient who sustained cardiac arrest after a traumatic amputation. Serum ammonia levels may rise due to numerous etiologies; however, few reports detail its usefulness in diagnosing subclinical seizures. In this case, we successfully utilized persistently elevated serum ammonia levels as a marker of subclinical seizures in a patient who sustained traumatic cardiac arrest.
December 2016: Archives of Trauma Research
https://www.readbyqxmd.com/read/28138203/reversible-encephalopathy-due-to-valproic-acid-induced-hyperammonemia-in-a-patient-with-bipolar-i-disorder-a-cautionary-report
#13
Neel Patel, Katherine B Landry, Rachel E Fargason, Badari Birur
Valproic acid (VPA) is an FDA-approved medication widely prescribed for seizures, migraines, and mixed or manic episodes in bipolar disorder. Hyperammonemia is a rare complication of VPA use, which can result in high morbidity and occasionally fatal encephalopathy. The scant literature on Valproate Induced Hyperammonemic Encephalopathy (VIHE) is characterized by acute onset of decreasing level of consciousness, drowsiness, lethargy which in rare instances can lead to seizures, stupor, coma, and persistent morbidity and cortical damage...
January 26, 2017: Psychopharmacology Bulletin
https://www.readbyqxmd.com/read/28130067/farnesoid-x-receptor-activation-promotes-hepatic-amino-acid-catabolism-and-ammonium-clearance-in-mice
#14
Vittoria Massafra, Alexandra Milona, Harmjan R Vos, Rúben J J Ramos, Johan Gerrits, Ellen C L Willemsen, José M Ramos Pittol, Noortje Ijssennagger, Martin Houweling, Hubertus C M T Prinsen, Nanda M Verhoeven-Duif, Boudewijn M Burgering, Saskia W C van Mil
BACKGROUND & AIMS: The nuclear receptor subfamily 1 group H member 4 (NR1H4 or farnesoid X receptor, FXR) regulates bile acid synthesis, transport, and catabolism. FXR also regulates post-prandial lipid and glucose metabolism. We performed quantitative proteomic analyses of liver tissues from mice to evaluate these functions and investigate whether FXR regulates amino acid metabolism. METHODS: To study the role of FXR in mouse liver, we used mice with a disruption of Nr1h4 (FXR-knockout mice) and compared them to floxed control mice...
January 24, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28111830/mutations-in-the-human-argininosuccinate-synthetase-ass1-gene-impact-on-patients-common-changes-and-structural-considerations
#15
Carmen Diez-Fernandez, Véronique Rüfenacht, Johannes Häberle
Citrullinemia type 1 is an autosomal recessive urea cycle disorder caused by defects in the argininosuccinate synthetase (ASS) enzyme due to mutations in ASS1 gene. An impairment of ASS function can lead to a wide spectrum of phenotypes, from life-threatening neonatal hyperammonemia to a later onset with mild symptoms, and even some asymptomatic patients exhibiting an only biochemical phenotype. The disease is panethnic. In this update, we report 137 mutations (64 of which are novel), consisting of 89 missense mutations, 19 nonsense mutations, 17 mutations that affect splicing and 12 deletions...
January 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28109354/ureaplasma-transmitted-from-donor-lungs-is-pathogenic-after-lung-transplantation
#16
Ramiro Fernandez, Amy Ratliff, Donna Crabb, Ken B Waites, Ankit Bharat
Hyperammonemia is a highly fatal syndrome in lung recipients that is usually refractory to medical therapy. We recently reported that infection by a Mollicute, Ureaplasma, is causative for hyperammonemia and can be successfully treated with antimicrobial agents. However, it remains unknown whether the pathogenic strain of Ureaplasma is donor or recipient derived. Here we provide evidence that donor-derived Ureaplasma infection can be pathogenic. As such, we uncover a previously unknown lethal donor-derived opportunistic infection in lung recipients...
February 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28097854/-citrullinemia-type-i-with-recurrent-liver-failure-in-a-child
#17
Verónica Bindi, Hernán Eiroa
Citrullinemia type I is an autosomal recessive disorder caused by mutation of the gene expressing ASS1 argininosuccinate synthetase, limiting enzyme of the urea cycle. The classic variants are associated with neonatal/infantile forms that cause hyperammonemia leading to death if treatment is not established. Initial symptoms of disorders of the urea cycle include neurological impairment with mild or moderate liver damage. We report a case of recurrent liver failure in an infant diagnosed with type I citrullinemia without severe neurological involvement that was referred to our center for liver transplantation...
1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28067279/impaired-novelty-acquisition-and-synaptic-plasticity-in-congenital-hyperammonemia-caused-by-hepatic-glutamine-synthetase-deficiency
#18
Aisa N Chepkova, Olga A Sergeeva, Boris Görg, Helmut L Haas, Nikolaj Klöcker, Dieter Häussinger
Genetic defects in ammonia metabolism can produce irreversible damage of the developing CNS causing an impairment of cognitive and motor functions. We investigated alterations in behavior, synaptic plasticity and gene expression in the hippocampus and dorsal striatum of transgenic mice with systemic hyperammonemia resulting from conditional knockout of hepatic glutamine synthetase (LGS-ko). These mice showed reduced exploratory activity and delayed habituation to a novel environment. Field potential recordings from LGS-ko brain slices revealed significantly reduced magnitude of electrically-induced long-term potentiation (LTP) in both CA3-CA1 hippocampal and corticostriatal synaptic transmission...
January 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28066916/ammonia-mediates-cortical-hemichannel-dysfunction-in-rodent-models-of-chronic-liver-disease
#19
Anna Hadjihambi, Francesco De Chiara, Patrick S Hosford, Abeba Habtetion, Anastassios Karagiannis, Nathan Davies, Alexander V Gourine, Rajiv Jalan
: The pathogenesis of hepatic encephalopathy (HE) in cirrhosis is multifactorial and ammonia is thought to play a key role. Astroglial dysfunction is known to be present in HE. Astrocytes are extensively connected by gap junctions formed of connexins, which also exist as functional hemichannels allowing exchange of molecules between the cytoplasm and the extracellular milieu. The astrocyte-neuron lactate shuttle hypothesis suggests that neuronal activity is fuelled (at least in part) by lactate provided by neighbouring astrocytes...
January 9, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28057010/update-on-lysinuric-protein-intolerance-a-multi-faceted-disease-retrospective-cohort-analysis-from-birth-to-adulthood
#20
Wladimir Mauhin, Florence Habarou, Stéphanie Gobin, Aude Servais, Anaïs Brassier, Coraline Grisel, Célina Roda, Graziella Pinto, Despina Moshous, Fahd Ghalim, Pauline Krug, Nelly Deltour, Clément Pontoizeau, Sandrine Dubois, Murielle Assoun, Louise Galmiche, Jean-Paul Bonnefont, Chris Ottolenghi, Jacques de Blic, Jean-Baptiste Arnoux, Pascale de Lonlay
BACKGROUND: Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding the cationic amino-acids transporter subunit y(+)LAT1. The disease is characterised by protein-rich food intolerance with secondary urea cycle disorder, but symptoms are heterogeneous ranging from infiltrative lung disease, kidney failure to auto-immune complications. This retrospective study of all cases treated at Necker Hospital (Paris, France) since 1977 describes LPI in both children and adults in order to improve therapeutic management...
January 5, 2017: Orphanet Journal of Rare Diseases
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