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Hyperammonemia

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https://www.readbyqxmd.com/read/28097854/-citrullinemia-type-i-with-recurrent-liver-failure-in-a-child
#1
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
#2
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
#3
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
#4
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
https://www.readbyqxmd.com/read/28031453/acute-liver-failure-meets-soph-syndrome-a-case-report-on-an-intermediate-phenotype
#5
Fanny Kortüm, Iris Marquardt, Malik Alawi, Georg Christoph Korenke, Stephanie Spranger, Peter Meinecke, Kerstin Kutsche
Acute liver failure (ALF) is a life-threatening condition in the absence of preexisting liver disease in children. The main clinical presentation comprises hepatic dysfunction, elevated liver biochemical values, and coagulopathy. The etiology of ALF remains unclear in most affected children; however, the recent identification of mutations in the neuroblastoma amplified sequence (NBAS) gene in autosomal recessively inherited ALF has shed light on the cause of a subgroup of fever-triggered pediatric ALF episodes...
January 2017: Pediatrics
https://www.readbyqxmd.com/read/28024286/taurine-treatment-preserves-brain-and-liver-mitochondrial-function-in-a-rat-model-of-fulminant-hepatic-failure-and-hyperammonemia
#6
Akram Jamshidzadeh, Reza Heidari, Mozhgan Abasvali, Mehdi Zarei, Mohammad Mehdi Ommati, Narges Abdoli, Forouzan Khodaei, Yasaman Yeganeh, Faezeh Jafari, Azita Zarei, Zahra Latifpour, Elnaz Mardani, Negar Azarpira, Behnam Asadi, Asma Najibi
Ammonia-induced mitochondrial dysfunction and energy crisis is known as a critical consequence of hepatic encephalopathy (HE). Hence, mitochondria are potential targets of therapy in HE. The current investigation was designed to evaluate the role of taurine treatment on the brain and liver mitochondrial function in a rat model of hepatic encephalopathy and hyperammonemia. The animals received thioacetamide (400mg/kg, i.p, for three consecutive days at 24-h intervals) as a model of acute liver failure and hyperammonemia...
December 23, 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28012068/ammonia-toxicity-from-head-to-toe
#7
Srinivasan Dasarathy, Rajeshwar P Mookerjee, Veronika Rackayova, Vinita Rangroo Thrane, Balasubramaniyan Vairappan, Peter Ott, Christopher F Rose
Ammonia is diffused and transported across all plasma membranes. This entails that hyperammonemia leads to an increase in ammonia in all organs and tissues. It is known that the toxic ramifications of ammonia primarily touch the brain and cause neurological impairment. However, the deleterious effects of ammonia are not specific to the brain, as the direct effect of increased ammonia (change in pH, membrane potential, metabolism) can occur in any type of cell. Therefore, in the setting of chronic liver disease where multi-organ dysfunction is common, the role of ammonia, only as neurotoxin, is challenged...
December 24, 2016: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28007335/precision-medicine-in-rare-disease-mechanisms-of-disparate-effects-of-n-carbamyl-l-glutamate-on-mutant-cps1-enzymes
#8
Dashuang Shi, Gengxiang Zhao, Nicholas Ah Mew, Mendel Tuchman
This study documents the disparate therapeutic effect of N-carbamyl-l-glutamate (NCG) in the activation of two different disease-causing mutants of carbamyl phosphate synthetase 1 (CPS1). We investigated the effects of NCG on purified recombinant wild-type (WT) mouse CPS1 and its human corresponding E1034G (increased ureagenesis on NCG) and M792I (decreased ureagenesis on NCG) mutants. NCG activates WT CPS1 sub-optimally compared to NAG. Similar to NAG, NCG, in combination with MgATP, stabilizes the enzyme, but competes with NAG binding to the enzyme...
December 8, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27990104/hepatic-encephalopathy-due-to-congenital-multiple-intrahepatic-portosystemic-venous-shunts-successfully-treated-by-percutaneous-transhepatic-obliteration
#9
Shinsuke Takenaga, Kenichi Narita, Yo Matsui, Kunihiko Fukuda
Hepatic encephalopathy due to intrahepatic portosystemic venous shunts (IPSVS) in a non-cirrhotic condition is rare. Here we report a rare case of a patient with congenital multiple IPSVS successfully treated by percutaneous transhepatic obliteration. The patient was a 67-year-old woman who presented to our hospital with progressive episodes of consciousness disorder and vomiting. Laboratory tests revealed hyperammonemia (192.0 μg/dL), and computed tomography revealed multiple IPSVS in both lobes. There was no evidence of underlying liver disease or hepatic trauma...
September 2016: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/27981407/the-bile-duct-ligated-rat-a-relevant-model-to-study-muscle-mass-loss-in-cirrhosis
#10
Cristina R Bosoi, Mariana M Oliveira, Rafael Ochoa-Sanchez, Mélanie Tremblay, Gabriella A Ten Have, Nicolaas E Deutz, Christopher F Rose, Chantal Bemeur
Muscle mass loss and hepatic encephalopathy (complex neuropsychiatric disorder) are serious complications of chronic liver disease (cirrhosis) which impact negatively on clinical outcome and quality of life and increase mortality. Liver disease leads to hyperammonemia and ammonia toxicity is believed to play a major role in the pathogenesis of hepatic encephalopathy. However, the effects of ammonia are not brain-specific and therefore may also affect other organs and tissues including muscle. The precise pathophysiological mechanisms underlying muscle wasting in chronic liver disease remains to be elucidated...
December 15, 2016: Metabolic Brain Disease
https://www.readbyqxmd.com/read/27978498/ornithine-and-its-role-in-metabolic-diseases-an-appraisal
#11
REVIEW
Muthukumaran Sivashanmugam, Jaidev J, Umashankar V, Sulochana K N
Ornithine is a non-essential amino acid produced as an intermediate molecule in urea cycle. It is a key substrate for the synthesis of proline, polyamines and citrulline. Ornithine also plays an important role in the regulation of several metabolic processes leading to diseases like hyperorithinemia, hyperammonemia, gyrate atrophy and cancer in humans. However, the mechanism of action behind the multi-faceted roles of ornithine is yet to be unraveled completely. Several types of cancers are also characterized by excessive polyamine synthesis from ornithine by different rate limiting enzymes...
December 12, 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/27974891/impact-of-exposure-to-fenitrothion-on-vital-organs-in-rats
#12
Rasha Abdel-Ghany, Ebaa Mohammed, Shimaa Anis, Waleed Barakat
This study was designed to investigate the impact of oral administration of fenitrothion (10 mg/kg) on liver, kidney, brain, and lung function in rats. The effect was studied on days 7, 14, 21, 28, and 42. Our results have shown deterioration in liver function as evidenced by the elevation in serum ALT, AST, ALP, and bilirubin and reduction in albumin and hepatic glycogen. This was associated with a state of hyperglycemia and hyperlipidemia and increased prothrombin time, while hemoglobin content was reduced...
2016: Journal of Toxicology
https://www.readbyqxmd.com/read/27923571/a-simple-dried-blood-spot-method-for-in-vivo-measurement-of-ureagenesis-by-gas-chromatography-mass-spectrometry-using-stable-isotopes
#13
Gabriella Allegri, Sereina Deplazes, Hiu Man Grisch-Chan, Déborah Mathis, Ralph Fingerhut, Johannes Häberle, Beat Thöny
BACKGROUND: Clinical management of inherited or acquired hyperammonemia depends mainly on the plasma ammonia level which is not a reliable indicator of urea cycle function as its concentrations largely fluctuate. The gold standard to assess ureagenesis in vivo is the use of stable isotopes. METHODS: Here we developed and validated a simplified in vivo method with [(15)N]ammonium chloride ([(15)N]H4Cl) as a tracer. Non-labeled and [(15)N]urea were quantified by GC-MS after extraction and silylation...
January 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27913184/tolerance-of-hyperammonemia-in-brain-of-heteropneustes-fossilis-is-supported-by-glutamate-glutamine-cycle
#14
Suman Mishra, Rajnikant Mishra
This report presents analysis of molecular switches associated with tolerance to hyperammonemia in Heteropneustes fossilis because it tolerates about 100-fold more ammonia than mammals. Brains of Heteropneustes fossilis exposed to 100mM ammonium chloride were dissected after Zero hour as control, 16h and 20h exposure. The status of neuron and glia were analysed by Golgi staining, Luxol Fast Blue, and Nissl's staining. The expression patterns of genes associated to homeostasis of neuron and glia, management of oxidative stress and inflammation, ammonia metabolism and brain derived neurotrophic factor were analysed through reverse-transcriptase-polymerase chain reaction...
November 29, 2016: Journal of Chemical Neuroanatomy
https://www.readbyqxmd.com/read/27898091/restoring-ureagenesis-in-hepatocytes-by-crispr-cas9-mediated-genomic-addition-to-arginase-deficient-induced-pluripotent-stem-cells
#15
Patrick C Lee, Brian Truong, Agustin Vega-Crespo, W Blake Gilmore, Kip Hermann, Stephanie Ak Angarita, Jonathan K Tang, Katherine M Chang, Austin E Wininger, Alex K Lam, Benjamen E Schoenberg, Stephen D Cederbaum, April D Pyle, James A Byrne, Gerald S Lipshutz
Urea cycle disorders are incurable enzymopathies that affect nitrogen metabolism and typically lead to hyperammonemia. Arginase deficiency results from a mutation in Arg1, the enzyme regulating the final step of ureagenesis and typically results in developmental disabilities, seizures, spastic diplegia, and sometimes death. Current medical treatments for urea cycle disorders are only marginally effective, and for proximal disorders, liver transplantation is effective but limited by graft availability. Advances in human induced pluripotent stem cell research has allowed for the genetic modification of stem cells for potential cellular replacement therapies...
November 29, 2016: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/27891735/hyperammonemia-in-ornithine-transcarbamylase-deficient-recipients-following-living-donor-liver-transplantation-from-heterozygous-carrier-donors
#16
Tri Hening Rahayatri, Hajime Uchida, Kengo Sasaki, Takanobu Shigeta, Yoshihiro Hirata, Hiroyuki Kanazawa, Vidyadhar Mali, Akinari Fukuda, Seisuke Sakamoto, Mureo Kasahara
Ornithine transcarbamylase deficiency (OTCD) is a urea cycle disorder of X-linked inheritance, affecting the detoxification of excess nitrogen and leading to hyperammonemia (hyper-NH3 ). Living donor liver transplantation (LDLT) has been applied for the treatment of OTCD. This case series retrospectively reviewed two OTCD patients who experienced hyper-NH3 following LDLT. The first case was a 5-year-old girl who had onset of OTCD at 2 years of age. Ornithine transcarbamylase (OTC) enzyme activity was 62% for the donor and 15% for the recipient...
November 28, 2016: Pediatric Transplantation
https://www.readbyqxmd.com/read/27858371/hyperammonemia-as-a-presenting-feature-in-two-siblings-with-fbxl4-variants
#17
Sarah U Morton, Edward G Neilan, Roy W A Peake, Jiahai Shi, Klaus Schmitz-Abe, Meghan Towne, Kyriacos Markianos, Sanjay P Prabhu, Pankaj B Agrawal
Early-onset mitochondrial encephalomyopathy is a rare disorder that presents in the neonatal period with lactic acidosis, hypotonia, and developmental delay. Sequence variants in the nuclear-encoded gene FBXL4 have been previously demonstrated to be a cause of early-onset mitochondrial encephalomyopathy in several unrelated families. We have identified a pair of siblings with mutations in FBXL4 who each presented in the neonatal period with hyperammonemia, low plasma levels of aspartate, low urine levels of tricarboxylic acid cycle intermediates suggesting a defect in anaplerosis, and cerebellar hypoplasia in addition to lactic acidosis and other classic signs of mitochondrial encephalomyopathy...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27851382/1747-hyperammonemia-presenting-as-refractory-status-epilepticus-after-lung-transplant
#18
Diane McLaughlin, Lauren Ng, Jorge Mallea
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27851339/1704-hyperammonemia-following-chemotherapy-in-a-patient-with-suspected-latent-otc-deficiency
#19
Everett Lally, Janine Elizabeth Zee-Cheng, Orozco Jennifer, Jessica Scott Schwoerer, Megan Peters
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27851330/1695-reversal-of-coma-and-mri-findings-on-correction-of-bariatric-surgery-associated-hyperammonemia
#20
Subrat Khanal, Pranita Ghimire, Uma Bhat, Megha Dogra, Alexandra France, David Landsberg
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
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