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Hyperammonemia

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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
#1
Gabriella Allegri, Sereina Deplazes, Hiu Man Viecelli, 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...
December 3, 2016: 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
#2
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, 16hrs and 20hrs 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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/27851324/1689-refractory-hyperammonemia-in-a-post-gastric-bypass-surgery-patient
#9
Amanda McCambridge, Amra Sakusic, Ognjen Gajic
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27851318/1683-idiopathic-hyperammonemia-a-rare-complication-following-peripheral-blood-stem-cell-transplantation
#10
Salim Daouk, Hafiz Abdul Moiz Fakih, Amir Kamel, Michael Jantz
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27851311/1676-hyperammonemia-associated-with-decompensated-carnitine-palmitoyltransferase-1-deficiency
#11
Akshay Shah, Raja Jayaram, Adrian Wong
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27847646/hyperammonemia-is-associated-with-increasing-severity-of-both-liver-cirrhosis-and-hepatic-encephalopathy
#12
Abidullah Khan, Maimoona Ayub, Wazir Mohammad Khan
Background. Hyperammonemia resulting from chronic liver disease (CLD) can potentially challenge and damage any organ system of the body, particularly the brain. However, there is still some controversy regarding the diagnostic or prognostic values of serum ammonia in patients with over hepatic encephalopathy, especially in the setting of acute-on-chronic or chronic liver failure. Moreover, the association of serum ammonia with worsening Child-Pugh grade of liver cirrhosis has not been studied. Objective. This study was conducted to solve the controversy regarding the association between hyperammonemia and cirrhosis, especially hepatic encephalopathy in chronically failed liver...
2016: International Journal of Hepatology
https://www.readbyqxmd.com/read/27836465/naringin-regulates-glutamate-nitric-oxide-cgmp-pathway-in-ammonium-chloride-induced-neurotoxicity
#13
Arumugam Ramakrishnan, Natesan Vijayakumar, Mani Renuka
Naringin, plant bioflavonoid extracted mainly from grapefruit and other related citrus species. This study was designed to assess the neuroprotective effect of naringin on ammonium chloride (NH4Cl) induced hyperammonemic rats. Experimental hyperammonemia was induced by intraperitonial injection (i.p) of NH4Cl (100mg/kg body weight (b.w.)) thrice a week for 8 consecutive weeks. Hyperammonemic rats were treated with naringin (80mg/kg b.w.) via oral gavage. Naringin administration drastically restored the levels of blood ammonia, plasma urea, nitric oxide (NO), glutamate, glutamine, lipid peroxidation, lipid profile, activities of liver marker enzymes, antioxidant status and sodium/potassium-ATPase (Na(+)/K(+)-ATPase)...
November 8, 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/27834067/novel-pathogenic-variant-c-580c-t-in-the-cps1-gene-in-a-newborn-with-carbamoyl-phosphate-synthetase-1-deficiency-identified-by-whole-exome-sequencing
#14
Rihwa Choi, Hyung Doo Park, Mina Yang, Chang Seok Ki, Soo Youn Lee, Jong Won Kim, Junghan Song, Yun Sil Chang, Won Soon Park
Diagnosis of the urea cycle disorder (USD) carbamoyl-phosphate synthetase 1 (CPS1) deficiency (CPS1D) based on only the measurements of biochemical intermediary metabolites is not sufficient to properly exclude other UCDs with similar symptoms. We report the first Korean CPS1D patient using whole exome sequencing (WES). A four-day-old female neonate presented with respiratory failure due to severe metabolic encephalopathy with hyperammonemia (1,690 μmol/L; reference range, 11.2-48.2 μmol/L). Plasma amino acid analysis revealed markedly elevated levels of alanine (2,923 μmol/L; reference range, 131-710 μmol/L) and glutamine (5,777 μmol/L; reference range, 376-709 μmol/L), whereas that of citrulline was decreased (2 μmol/L; reference range, 10-45 μmol/L)...
January 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/27832696/hyperammonemic-induced-coma-by-bacterial-overgrowth-in-a-child-with-hirschsprung-s-disease
#15
Fatemeh Farahmand, Ahmad Khodadad, Gholamhosein Fallahi, Davood Motaharizad, Javad Sabery Nejad
Cases with Hirschsprung's disease show the functional intestinal obstruction. Obstruction in these patients may lead to bacterial overgrowth with stasis and inflammation of the colon. Bacterial overgrowth can cause hyperammonemia that makes lethargy and loss of conscious and finally admitting in ICU. The purpose of this case report is to present a case that had Hirschsprung's disease and referred to Children's Medical Center with serum hyper-ammonium caused by bacterial overgrowth that induced coma and altered level of consciousness then made her to admit to PICU...
September 2016: Acta Medica Iranica
https://www.readbyqxmd.com/read/27832417/lethal-neonatal-hyperammonemia-in-severe-ornithine-transcarbamylase-otc-deficiency-compounded-by-large-hepatic-portosystemic-shunt
#16
Lauren Beard, Erica Wymore, Laura Fenton, Curtis R Coughlin, James D Weisfeld-Adams
No abstract text is available yet for this article.
November 10, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27822667/organ-distribution-of-13-n-following-intravenous-injection-of-13-n-ammonia-into-portacaval-shunted-rats
#17
Nancy F Cruz, Gerald A Dienel, Patricia A Patrick, Arthur J L Cooper
Ammonia is neurotoxic, and chronic hyperammonemia is thought to be a major contributing factor to hepatic encephalopathy in patients with liver disease. Portacaval shunting of rats is used as an animal model to study the detrimental metabolic effects of elevated ammonia levels on body tissues, particularly brain and testes that are deleteriously targeted by high blood ammonia. In normal adult rats, the initial uptake of label (expressed as relative concentration) in these organs was relatively low following a bolus intravenous injection of [(13)N]ammonia compared with lungs, kidneys, liver, and some other organs...
November 8, 2016: Neurochemical Research
https://www.readbyqxmd.com/read/27817783/-pancytopenia-and-metabolic-decompensation-in-a-neonate
#18
Jian-Qiang Tan, Da-Yu Chen, Zhen-Qin Mo, Zhe-Tao Li, Ji-Wei Huang, Ren Cai, Ti-Zhen Yan
A 9-day-old male patient was admitted to the hospital because of cough, anhelation, feeding difficulty and lethargy. The diagnostic examinations indicated pulmonary infection, severe metabolic acidosis, hyperglycemia, hyperammonemia and pancytopenia in the patient. Blood and urine screening and isovaleryl-CoA dehydrogenase (IVD) gene detection for inherited metabolic diseases were performed to clarify the etiology. Tandem mass spectrometric screening for blood showed an elevated isovalerylcarnitine (C5) level...
November 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27815224/minimal-hepatic-encephalopathy-in-children-with-chronic-liver-disease-prevalence-pathogenesis-and-magnetic-resonance-based-diagnosis
#19
Anshu Srivastava, Saurabh Chaturvedi, Rakesh Kumar Gupta, Rohan Malik, Amrita Mathias, Naranamangalam R Jagannathan, Sunil Jain, Chandra Mani Pandey, Surender Kumar Yachha, Ram Kishor Singh Rathore
BACKGROUND AND AIMS: Data on minimal hepatic encephalopathy (MHE) in children is scanty. We evaluated children with chronic liver disease (CLD) to determine prevalence of MHE, its correlation with changes in brain metabolites by magnetic resonance spectroscopy ((1)HMRS), diffusion tensor imaging (DTI) derived metrics, blood ammonia (BA) and inflammatory cytokines and the accuracy of MR based investigations for diagnosis METHODS: 67(38 boys; age 13[7-18] years) CLD and 37 healthy children were evaluated with neuropsychological tests (NPT), BA, interleukin-6 [IL6], tumor necrosis factor alpha [TNFα], magnetic resonance imaging (MRI),(1)HMRS and DTI...
November 1, 2016: Journal of Hepatology
https://www.readbyqxmd.com/read/27808506/identification-of-a-novel-activator-of-mammalian-glutamate-dehydrogenase
#20
Hong Qiu Smith, Thomas James Smith
Glutamate dehydrogenase (GDH) catalyzes the oxidative deamination of L-glutamate and in animals is highly regulated. GDH in Hyperinsulinism/hyperammonemia syndrome (HHS) patients lack GTP inhibition resulting in hypersecretion of insulin upon protein consumption. This suggests insulin secretion could be stimulated with GDH activators. A high throughput screen yielded one potent activator N1-[4-(2-aminopyrimidin-4-yl)phenyl]-3-(trifluoromethyl)benzene-1-sulfonamide (75-E10). 75-E10 is ~1,000 fold more efficacious than the synthetic activator, BCH, and is at least as effective as ADP...
November 3, 2016: Biochemistry
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