Genomes and Genes
Summary: Metabolic disorder characterized by elevated level of ammonia in blood.
Publications274 found, 100 shown here
- Mechanisms of hyperammonemiaClaude Bachmann
Laboratoire Central de Chimie Clinique, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Switzerland
Clin Chem Lab Med 40:653-62. 2002b>Hyperammonemia is mainly found in hepatic encephalopathy and in genetic defects of the urea cycle or other pathways of the intermediary metabolism...
- Hyperammonemia in the ICUAlison S Clay
Department of Surgery and Medicine, Duke University Medical Center, Box 2945, Durham, NC 27710, USA
Chest 132:1368-78. 2007..When hyperammonemia is not thought to be the result of liver failure, treatment for an occult disorder of metabolism must begin ..
- N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduriaLuca Filippi
Neonatal Intensive Care Unit, Department of Critical Care Medicine, A Meyer University Children s Hospital, IT 50134 Florence, Italy
Neonatology 97:286-90. 2010In propionic aciduria and methylmalonic aciduria, hyperammonemia as a symptom of metabolic decompensation is one of the major clinical problems...
- Persistent arterial hyperammonemia increases the concentration of glutamine and alanine in the brain and correlates with intracranial pressure in patients with fulminant hepatic failureFlemming Tofteng
Department of Hepatology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
J Cereb Blood Flow Metab 26:21-7. 2006..prospective study of patients with fulminant hepatic failure (FHF), we tested the hypothesis that arterial hyperammonemia results in cerebral accumulation of the osmotic active amino acids glutamine and alanine, processes that were ..
- Hyperammonemia-induced toxicity for the developing central nervous systemLaurène Cagnon
Clinical Chemistry Laboratory, Centre Hospitalier Universitaire Vaudois and University of Lausanne, CI 02 33, Avenue Pierre Decker 2, CH 1011 Lausanne, Switzerland
Brain Res Rev 56:183-97. 2007In pediatric patients, hyperammonemia can be caused by various acquired or inherited disorders such as urea cycle deficiencies or organic acidemias...
- Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodesMarshall L Summar
Vanderbilt University Medical Center, Nashville, TN, USA
Acta Paediatr 97:1420-5. 2008..A large longitudinal interventional study of patients with a urea cycle disorder (UCD) in hyperammonaemic crisis was undertaken to amass a significant body of data on their presenting symptoms and survival...
- Effect of morin on the levels of circulatory liver markers and redox status in experimental chronic hyperammonaemic ratsS Subash
Department of Biochemistry and Biotechnology, Faculty of Science, Annamalai University, Annamalainagar 608002, Tamil Nadu, India
Singapore Med J 49:650-5. 2008..Our aim was to investigate the effect of morin on circulatory liver markers, lipid peroxidation and antioxidant status in ammonium chloride (AC)-induced hyperammonaemic rats...
- Effect of H pylori infection and its eradication on hyperammo-nemia and hepatic encephalopathy in cirrhotic patientsShu jie Chen
Department of Gastroenterology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China
World J Gastroenterol 14:1914-8. 2008..To investigate the relationship between H pylori infection, blood ammonia concentration and hepatic encephalopathy (HE), and the effect of H pylori eradication in cirrhotic patients...
- Alterations of blood brain barrier function in hyperammonemia: an overviewMarta Skowronska
Departament of Neurotoxicology, Mossakowski Medical Research Centre, Polish Academy of Sciences, 02 106 Warszawa, Pawinskiego 5, Poland
Neurotox Res 21:236-44. 2012Ammonia is a neurotoxin involved in the pathogenesis of neurological conditions associated with hyperammonemia, including hepatic encephalopathy, a condition associated with acute--(ALF) or chronic liver failure...
- Hyperammonemia increases the expression and activity of the glutamine/arginine transporter y+ LAT2 in rat cerebral cortex: implications for the nitric oxide/cGMP pathwayMagdalena Zielinska
Department of Neurotoxicology, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawinskiego 5 Str, 02 106 Warsaw, Poland
Neurochem Int 58:190-5. 2011The pathogenesis of hepatic encephalopathy (HE) is associated with hyperammonemia (HA) and subsequent exposure of the brain to excess of ammonia...
- Hyperammonemia induces neuroinflammation that contributes to cognitive impairment in rats with hepatic encephalopathyRegina Rodrigo
Laboratory of Neurobiology, Centro de Investigacion Principe Felipe, Valencia, Spain
Gastroenterology 139:675-84. 2010b>Hyperammonemia and inflammation cooperate to induce neurological alterations in hepatic encephalopathy...
- HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentationS Fecarotta
Department of Pediatrics, Federico II University, Via S Pansini 5, 80131 Naples, Italy
J Inherit Metab Dis 29:186-9. 2006..The diagnosis of HHH syndrome should be considered in patients with fulminant hepatitis-like presentations. Early identification and treatment of these patients can be life-saving and can avoid liver transplantation...
- Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndromeB Y Hsu
Division of Endocrinology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
J Pediatr 138:383-9. 2001OBJECTIVE: Because the hyperinsulinism/hyperammonemia (HI/HA) syndrome is associated with gain of function mutations in the leucine-stimulated insulin secretion pathway, we examined whether protein feeding or fasting was responsible for ..
- Neurological aspects of hyperinsulinism-hyperammonaemia syndromeNadia Bahi-Buisson
Department of Paediatric Neurology and Metabolic Diseases, Necker Children s Hospital, Paris V University, Paris, France
Dev Med Child Neurol 50:945-9. 2008..Our data demonstrate that neurological disorders in HHS are more frequent than previously thought and might suggest that mutations in the GTP binding site of GDH could be associated with more frequent epilepsy...
- Transient hyperammonemia due to L-asparaginase therapy in children with acute lymphoblastic leukemia or non-Hodgkin lymphomaC Jörck
Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany
Pediatr Hematol Oncol 28:3-9. 2011..non-Hodgkin lymphoma (NHL) in childhood includes intravenous therapy with asparaginase (Asp), which may cause hyperammonemia. In this study, all patients receiving asparaginase therapy at the Hospital for Children and Adolescents of ..
- Pathogenesis and diagnosis of hepatic encephalopathyMark J W McPhail
Hepatology Section, Department of Medicine, 10th Floor QEQM Wing, St Mary s Hospital Campus, Imperial College London, South Wharf Street, London W2 1NY, UK
Expert Rev Gastroenterol Hepatol 4:365-78. 2010..b>Hyperammonemia and subsequent cell swelling is a key pathophysiological abnormality, but this aspect alone is insufficient to ..
- Nitric oxide in hepatic encephalopathy and hyperammonemiaVemuganti L Raghavendra Rao
Department of Neurological Surgery and Cardiovascular Research Center, University of Wisconsin Madison, H4 334 CSC, 600 Highland Avenue, Madison, WI 53792, USA
Neurochem Int 41:161-70. 2002..b>Hyperammonemia associated with liver dysfunction results in increased NO, which may lead to learning and memory impairments ..
- Direct exposure to ammonia and hyperammonemia increase the extracellular accumulation and degradation of astroglia-derived glutathione in the rat prefrontal cortexWojciech Hilgier
Department of Neurotoxicology, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
Toxicol Sci 117:163-8. 2010..GSH in the microdialysates was significantly elevated in rats with simple hyperammonemia (HA) or hepatic encephalopathy (HE) (three ip administrations of ammonium acetate or thioacetamide, ..
- Cerebral energy metabolism in hepatic encephalopathy and hyperammonemiaK V Rao
Laboratory of Neuropathology, Veterans Administration Medical Center, University of Miami School of Medicine, Florida, USA
Metab Brain Dis 16:67-78. 2001..Altered mitochondrial metabolism appears to be an important mechanism responsible for the cerebral abnormalities associated with HE and other hyperammonemic states...
- Chronic hyperammonemia induces tonic activation of NMDA receptors in cerebellumNisrin ElMlili
Laboratory of Neurobiology, Centro de Investigacion Principe Felipe, Valencia, Spain
J Neurochem 112:1005-14. 2010..of the glutamate--nitric oxide (NO)--cGMP pathway is responsible for some cognitive alterations in rats with hyperammonemia and hepatic encephalopathy...
- Acute hyperammonemia activates branched-chain amino acid catabolism and decreases their extracellular concentrations: different sensitivity of red and white muscleMilan Holecek
Department of Physiology, Medical Faculty in Hradec Kralove, Charles University in Prague, Simkova 870, 500 38, Hradec Kralove, Czech Republic
Amino Acids 40:575-84. 2011b>Hyperammonemia is considered to be the main cause of decreased levels of the branched-chain amino acids (BCAA), valine, leucine, and isoleucine, in liver cirrhosis...
- Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerationsJohannes Haberle
University Children s Hospital Zurich, Division of Metabolism, Zurich, Switzerland
Hum Mutat 32:579-89. 2011Deficiency of carbamoyl phosphate synthetase I (CPSI) results in hyperammonemia ranging from neonatally lethal to environmentally induced adult-onset disease...
- Acetyl-L-carnitine in hepatic encephalopathyMichele Malaguarnera
International Ph D Program in Neuropharmacology, University of Catania, Catania, Italy
Metab Brain Dis 28:193-9. 2013..The aim of this review was to provide an explanation on the possible toxic effects of ammonia in HE and evaluate the potential clinical benefits of ALC...
- Hyperammonemia causes protein oxidation and enhanced proteasomal activity in response to mitochondria-mediated oxidative stress in rat primary astrocytesRebecca Widmer
Research Institute of Environmental Medicine at the Heinrich Heine University, Dusseldorf, Germany
Arch Biochem Biophys 464:1-11. 2007b>Hyperammonemia, as a consequence of severe liver failure, is strongly associated with the neurological syndrome hepatic encephalopathy (HE) whereby excessive ammonia is metabolized by astrocytes, followed by cell and brain swelling in ..
- Hyperammonemia inhibits the natriuretic peptide receptor 2 (NPR-2)-mediated cyclic GMP synthesis in the astrocytic compartment of rat cerebral cortex slicesMagdalena Zielinska
Department of Neurotoxicology, Medical Research Centre, Polish Academy of Sciences, Pawinskiego 5, 02 106 Warsaw, Poland
Neurotoxicology 28:1260-3. 2007The decrease of cyclic GMP (cGMP) level in the brain, contributing to cognitive and memory deficit in hyperammonemia (HA), has been attributed to the interference of ammonia with the NMDA/nitric oxide/soluble guanylate cyclase (GC)/cGMP ..
- The effect of fractionated plasma separation and adsorption on cerebral amino acid metabolism and oxidative metabolism during acute liver failurePeter Nissen Bjerring
Department of Hepatology, Rigshospitalet, Copenhagen, Denmark
J Hepatol 57:774-9. 2012..This study aimed at assessing the effect of fractionated plasma separation and adsorption (FPSA), an extracorporeal liver support system, on cerebral amino acids and lactate to pyruvate ratio...
- Alternative pathway therapy for urea cycle disorders: twenty years laterM L Batshaw
Children's National Medical Center, Washington, DC 20010, USA
J Pediatr 138:S46-54; discussion S54-5. 2001..Finally, it must be acknowledged that alternative pathway therapy has limited effectiveness in preventing hyperammonemia and must be combined with effective dietary management...
- Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluationClaude Bachmann
Laboratoire Central de Chimie Clinique, Centre Hospitalier Universitaire Vaudois, Bugnon 46, 1011 Lausanne, Switzerland
Eur J Pediatr 162:410-6. 2003....
- Systemic inflammatory response exacerbates the neuropsychological effects of induced hyperammonemia in cirrhosisDebbie L Shawcross
Liver Failure Group, Institute of Hepatology, University College London Medical School, 69 75, Chenies Mews, London WC1E 6HX, UK
J Hepatol 40:247-54. 2004..We tested the hypothesis that SIRS mediators, such as nitric oxide and proinflammatory cytokines, may exacerbate the neuropsychological effects of hyperammonemia in cirrhosis.
- Effect of glutamine synthetase inhibition on astrocyte swelling and altered astroglial protein expression during hyperammonemia in ratsH Tanigami
Department of Anesthesiology and Critical Care Medicine, The Johns Hopkins Medical Institutions, 600 North Wolfe Street Blalock 1404, Baltimore, MD 21287 4961, USA
Neuroscience 131:437-49. 2005..b>Hyperammonemia increased the number of swollen astrocytes in cortex and MSO reduced this increase to control values...
- Systemic activation of glutamate dehydrogenase increases renal ammoniagenesis: implications for the hyperinsulinism/hyperammonemia syndromeJason R Treberg
Department of Biochemistry, Memorial University of Newfoundland, St John s, Newfoundland, Canada
Am J Physiol Endocrinol Metab 298:E1219-25. 2010The hyperinsulism/hyperammonemia (HI/HA) syndrome is caused by glutamate dehydrogenase (GDH) gain-of-function mutations that reduce the inhibition by GTP, consequently increasing the activity of GDH in vivo...
- The brain in acute liver failure. A tortuous path from hyperammonemia to cerebral edemaPeter Nissen Bjerring
Dept Hepatology, section A 2121, Rigshospitalet, University Hospital of Copenhagen, Blegdamsvej 9, 2100 Copenhagen, Denmark
Metab Brain Dis 24:5-14. 2009..This review will focus on the effects of hyperammonemia on neurotransmission, mitochondrial function, oxidative stress, inflammation and regulation of cerebral blood ..
- Neurological implications of urea cycle disordersA L Gropman
Department of Neurology, Children s National Medical Center and the George Washington University of the Health Sciences, 111 Michigan Avenue, N W, Washington, DC 20010, USA
J Inherit Metab Dis 30:865-79. 2007..Thus, both strategies are intriguing areas for potential investigation in human urea cycle disorders...
- Acid-sensitive ionic channels in midbrain dopamine neurons are sensitive to ammonium, which may contribute to hyperammonemia damageVolodymyr I Pidoplichko
Department of Neuroscience, Menninger Department of Psychiatry and Behavioral Science, Baylor College of Medicine, Houston, TX 77030, USA
Proc Natl Acad Sci U S A 103:11376-80. 2006..The ammonium sensitivity suggests a role for ASIC1s in hepatic encephalopathy, cirrhosis, and other neuronal disorders that are associated with hyperammonemia.
- Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndromeS Salvi
Department of Neurosciences, Pathology, and Radiology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
Neurology 57:911-4. 2001The authors report the clinical and molecular findings in eight patients with hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome...
- Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) geneKatharina Engel
Universitatsklinikum Munster, Klinik und Poliklinik für Kinder und Jugendmedizin, Munster, Germany
Hum Mutat 30:300-7. 2009..of ASS1 shows various clinical manifestations encompassing severely affected patients with fatal neonatal hyperammonemia as well as asymptomatic individuals with only a biochemical phenotype...
- Long-term management of patients with urea cycle disordersG T Berry
Division of Human Genetics and Molecular Biology, Department of Pediatrics, University of Pennsylvania School of Medicine, The Children's Hospital of Philadelphia, Pennsylvania 19104-4399, USA
J Pediatr 138:S56-60; discussion S60-1. 2001....
- Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiencyPeter Gessler
Klinikum, Klinik fur Kinder und Jugendliche, 78461 Konstanz, Germany
Eur J Pediatr 169:197-9. 2010N-Acetylglutamate synthase (NAGS) deficiency is a rare urea cycle disorder, which may present in the neonatal period with severe hyperammonemia and marked neurological impairment.
- Urea cycle disordersJ V Leonard
Biochemistry, Endocrine and Metabolic Unit, Institute of Child Health, London, UK
Semin Neonatol 7:27-35. 2002..Severe hyperammonaemia is usually associated with irreversible neurological damage, particularly if levels have been above 800 micromol/l for >24 hours, and the option of withdrawing treatment should be discussed with the family...
- Current concepts in the pathogenesis of urea cycle disordersOlivier Braissant
Inborn Errors of Metabolism, Clinical Chemistry Laboratory, Centre Hospitalier Universitaire Vaudois and University of Lausanne, CI 02 33, Lausanne, Switzerland
Mol Genet Metab 100:S3-S12. 2010The common feature of urea cycle diseases (UCD) is a defect in ammonium elimination in liver, leading to hyperammonemia. This excess of circulating ammonium eventually reaches the central nervous system, where the main toxic effects of ..
- Urea cycle disorders: clinical presentation outside the newborn periodWendy Smith
Maine Pediatric Specialty Group, Portland, ME 04102, USA
Crit Care Clin 21:S9-17. 2005..Treatment with dietary protein restriction and medications may be challenging in children...
- The hyperinsulinism/hyperammonemia syndromeAndrew A Palladino
The Children s Hospital of Philadelphia, Division of Endocrinology and Diabetes, University of Pennsylvania, School of Medicine, Philadelphia, PA 19104, USA
Rev Endocr Metab Disord 11:171-8. 2010The hyperinsulinism/hyperammonemia (HI/HA) syndrome is the second most common form of congenital hyperinsulinism (HI)...
- Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?Virginie Levrat
Centre de référence Maladies Héréditaires du Métabolisme, Service de Pediatrie, Hopital Edouard Herriot, Lyon, France
Orphanet J Rare Dis 3:2. 2008b>Hyperammonemia in patients with methylmalonic aciduria (MMA) and propionic aciduria (PA) is caused by accumulation of propionyl-CoA which decreases the synthesis of N-acetyl-glutamate, the natural activator of carbamyl phosphate ..
- Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolismCharles A Stanley
Division of Endocrinology, Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
Mol Genet Metab 81:S45-51. 2004The second most common form of congenital hyperinsulinism, the hyperinsulinism/hyperammonemia syndrome (HI/HA), is associated with dominantly expressed missense mutations of the mitochondrial matrix enzyme, glutamate dehydrogenase (GDH)...
- Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndromeJosé A Camacho
Department of Pediatrics, Division of Human Genetics, University of California, Irvine, CA 92697 3940, USA
Pediatr Res 60:423-9. 2006We studied two related families (HHH013 and HHH015) with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, a disorder of the urea cycle and ornithine degradation pathway, who have the same novel ornithine transporter (..
- Brain alanine formation as an ammonia-scavenging pathway during hyperammonemia: effects of glutamine synthetase inhibition in rats and astrocyte-neuron co-culturesSherry Dadsetan
Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
J Cereb Blood Flow Metab 33:1235-41. 2013b>Hyperammonemia is a major etiological toxic factor in the development of hepatic encephalopathy...
- Ornithine transcarbamylase deficiency: a urea cycle defectNeil Gordon
Eur J Paediatr Neurol 7:115-21. 2003..Liver transplant can be considered when symptoms are life-threatening, although there may be severe complications.Gene replacement therapy is the hope of the future...
- Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?Shailly Jain-Ghai
Hospital for Sick Children, 555 University Ave, Toronto, Ontario, Canada M5G1X8
Mol Genet Metab 104:107-11. 2011Enzyme defects of the urea cycle typically present with significant hyperammonemia and its associated toxicity, in the first few months of life...
- Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorderJosé A Camacho
Department of Pediatrics, University of Oklahoma Health Sciences Center, 975 N E 10th Street, Biomedical Research Center, Room BRC 256, Oklahoma City, OK 73104, USA
Mol Genet Metab 79:257-71. 2003..characterized the mitochondrial ornithine transporter (ORNT1), the gene defective in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, a urea cycle disorder...
- Hyperammonemia in idiopathic epileptic seizureKensuke Nakamura
Department of Emergency and Critical Care Medicine, The University of Tokyo Hospital, Tokyo 113 8655, Japan Electronic address
Am J Emerg Med 31:1486-9. 2013It is known that patients with convulsion often present hyperammonemia. The elevation of ammonia levels in convulsion is considered to occur along with extensive muscle contractions, but the details remain unclear...
- Moderate grade hyperammonemia activates lactate dehydrogenase-4 and 6-phosphofructo-2-kinase to support increased lactate turnover in the brain slicesAditi Mehrotra
Department of Zoology, Banaras Hindu University, Varanasi, India
Mol Cell Biochem 381:157-61. 2013..The low grade hyperammonemia (HA) is a common condition in the patients with chronic hepatic encephalopathy (HE); however, biochemistry of ..
- Contribution of hyperammonemia and inflammatory factors to cognitive impairment in minimal hepatic encephalopathyVicente Felipo
Laboratory of Neurobiology Centro de Investigación Príncipe Felipe, Valencia, Spain
Metab Brain Dis 27:51-8. 2012To assess the contribution of hyperammonemia and inflammation to induction of mild cognitive impairment (or MHE)...
- Brain regional alterations in the modulation of the glutamate-nitric oxide-cGMP pathway in liver cirrhosis. Role of hyperammonemia and cell types involvedRegina Rodrigo
Laboratory of Neurobiology, Centro de Investigacion Principe Felipe, Fundación de la Comunidad Valenciana Centro de Investigacion Principe Felipe, Valencia, Spain
Neurochem Int 48:472-7. 2006..b>Hyperammonemia and liver failure result in altered glutamatergic neurotransmission, which contributes to hepatic ..
- Acute and chronic hyperammonemia modulate antioxidant enzymes differently in cerebral cortex and cerebellumSantosh Singh
Biochemistry and Molecular Biology Laboratory, Department of Zoology, Banaras Hindu University, Varanasi 221005, India
Neurochem Res 33:103-13. 2008..Mostly, a low grade chronic type hyperammonemia (HA) prevails in patients with liver diseases and causes derangements mainly in cerebellum associated ..
- Hyperammonemia-mediated autophagy in skeletal muscle contributes to sarcopenia of cirrhosisJia Qiu
Departments of Pathobiology, Cleveland Clinic, Cleveland, Ohio 44195, USA
Am J Physiol Endocrinol Metab 303:E983-93. 2012b>Hyperammonemia and sarcopenia (loss of skeletal muscle) are consistent abnormalities in cirrhosis and portosystemic shunting...
- Hyperammonemia due to valproic acid in the psychiatric settingRussell B Carr
Northern Virginia Mental Health Institute, Falls Church, Virginia, USA
Am J Psychiatry 164:1020-7. 2007
- Interorgan metabolism of ornithine phenylacetate (OP)--a novel strategy for treatment of hyperammonemiaSherry Dadsetan
Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark
Biochem Pharmacol 85:115-23. 2013Combined administration of ornithine and phenylacetate (OP) is proposed as a novel treatment of hyperammonemia and hepatic encephalopathy...
- Brain edema and inflammatory activation in bile duct ligated rats with diet-induced hyperammonemia: A model of hepatic encephalopathy in cirrhosisRodrigo Jover
Gastroenterology Department, Hospital General Universitario de Alicante, Alicante, Spain
Hepatology 43:1257-66. 2006..In conclusion, the BDL+HD rats displayed similar neuroanatomical and neurochemical characteristics to human HE in liver cirrhosis. Brain edema and inflammatory activation can be detected under these circumstances...
- Ornithine restores ureagenesis capacity and mitigates hyperammonemia in Otc(spf-ash) miceJuan C Marini
Molecular and Human Genetics and Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA
J Nutr 136:1834-8. 2006..An unbalanced amino acid mixture, however, resulted in reduced ureagenesis and hyperammonemia. To study the effect of ornithine supplementation [316 micromol/(kg...
- Enzymatic analysis of α-ketoglutaramate--a biomarker for hyperammonemiaLenka Halámková
Department of Chemistry and Biomolecular Science, Clarkson University, Potsdam, NY 13699, USA
Talanta 100:7-11. 2012..The present study is the first step toward the development of a clinically useful probe for KGM analysis in biological fluids...
- [Study of correlation between Helicobacter pylori infection and hyperammonemia and hepatic encephalopathy in cirrhotic patients]Cun she Yang
Department of Digestive Medicine, Central Hospital of Xianyang, Xianyang 712000, Shannxi, China
Zhongguo Wei Zhong Bing Ji Jiu Yi Xue 19:422-4. 2007....
- Investigation of the oxidative effect of chronic hyperammonemia on the kidney and the possible protective effect of allopurinolOnur Elmas
Gulhane Military Medical Academy, Ankara, Turkey
Ren Fail 33:61-5. 2011Although there have been many studies on this topic, the molecular mechanism of the toxic effects of hyperammonemia on cells has not yet been fully explained...
- Interorgan ammonia metabolism in liver failure: the basis of current and future therapiesGavin Wright
UCL Institute of Hepatology, Division of Medicine, University College London, London, UK
Liver Int 31:163-75. 2011..Better understanding of these alternative pathways are leading to the development of new therapeutic approaches...
- Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern SaskatchewanAbdulrazaq A H Sokoro
Department of Pathology, Diagnostic Services of Manitoba and University of Manitoba, Health Sciences Centre, Winnipeg, MB, Canada
J Inherit Metab Dis 33:S275-81. 2010..human inner mitochondrial membrane ornithine transporter, are thought to be responsible for hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome, a rare autosomal recessive condition...
- Induced hyperammonemia may compromise the ability to generate restful sleep in patients with cirrhosisAlessia Bersagliere
Institute of Pharmacology and Toxicology, University of Zurich, Zurich, Switzerland
Hepatology 55:869-78. 2012In patients with cirrhosis, hyperammonemia and hepatic encephalopathy are common after gastrointestinal bleeding and can be simulated by an amino acid challenge (AAC), or the administration of a mixture of amino acids mimicking the ..
- The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndromeJosé A Camacho
Department of Pediatrics, University of California Irvine, Irvine, CA 92697, USA
Pediatr Res 66:35-41. 2009The hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a disorder of the urea cycle (UCD) and ornithine degradation pathway caused by mutations in the mitochondrial ornithine transporter (ORNT1)...
- [Vegetable protein diets with or without non-absorbable antibiotics for the treatment of chronic portal systemic encephalopathy]M Uribe
, , , Tlalpan, ,
Rev Invest Clin 42:120-6. 1990..At the beginning of treatment vegetable protein diet should be administered and only in case of failure, antibiotics are to be indicated...
- RNA oxidation and zinc in hepatic encephalopathy and hyperammonemiaFreimut Schliess
Heinrich Heine Universitat Dusseldorf, Klinik fur Gastroenterologie, Hepatologie, und Infektiologie, Moorenstrasse 5, D 40225 Dusseldorf, Germany
Metab Brain Dis 24:119-34. 2009..RNA oxidation offers a novel explanation for multiple disturbances of neurotransmitter systems and gene expression and the cognitive deficits observed in hepatic encephalopathy...
- Hyperammonemia following intravenous valproate loadingJennifer L DeWolfe
University of Alabama at Birmingham Epilepsy Center, Department of Neurology, 1719 6th Avenue South, CIRC 312, Birmingham, AL 35294 0021, United States
Epilepsy Res 85:65-71. 2009Valproic acid (VPA) has been associated with hyperammonemia with and without encephalopathy. We report the frequent but transient nature of hyperammonemia following intravenous (IV) administration of loading doses of VPA.
- Dual mechanism of brain damage induced in vivo by the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndromeCarolina Maso Viegas
Departamento de Bioquimica, Instituto de Ciencias Basicas da Saude, UFRGS, Porto Alegre, RS, Brazil
Brain Res 1369:235-44. 2011Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder caused by a defect in the mitochondrial ornithine transporter, leading to accumulation of ornithine (Orn), homocitrulline (Hcit) and ..
- Effects of hyperammonemia and liver failure on glutamatergic neurotransmissionPilar Monfort
Department of Neurobiology, Instituto de Investigaciones Citologicas, FVIB, Valencia, Spain
Metab Brain Dis 17:237-50. 2002..There are studies in the literature reporting alterations in all these steps in hyperammonemia and/or hepatic failure. Glutamatergic neurotransmission modulates important cerebral processes...
- Heliox use in the treatment of acute hyperammonemiaJ Barr
Pediatric Intensive Care Unit, Assaf Harofeh Medical Center, Zerifin, Israel
J Child Neurol 16:456-8. 2001The objective of this study was to evaluate a new method for the treatment of acute hyperammonemia with a helium-oxygen mixture (heliox). We conducted a prospective, randomized, controlled study of male Sprague-Dawley rats...
- Inborn errors of metabolism: an update on epidemiology and on neonatal-onset hyperammonemiaF Deodato
Divisions of Metabolism, Ospedale Pediatrico Bambino Gesu, Scientific Institute IRCCS, Rome, Italy
Acta Paediatr Suppl 93:18-21. 2004..Other relevant issues of our investigations focused on creating protocols of treatment for neonatal IEM, and on the development of new methods for the biochemical diagnosis...
- The molecular basis of ornithine transcarbamylase deficiencyM Tuchman
Children s Research Institute, Children s National Medical Center, Washington, DC 20010 2970, USA
Eur J Pediatr 159:S196-8. 2000..OTC deficiency is an X-linked disorder that causes hyperammonemia leading to brain damage, mental retardation and death...
- Unregulated insulin secretion by pancreatic beta cells in hyperinsulinism/hyperammonemia syndrome: role of glutamate dehydrogenase, ATP-sensitive potassium channel, and nonselective cation channelMie Kawajiri
Deparment of Pediatrics, Osaka City University Graduate School of Medicien, Osaka, Japan
Pediatr Res 59:359-64. 2006The hyperinsulinism/hyperammonemia (HI/HA) syndrome is caused by "gain of function" of glutamate dehydrogenase (GDH)...
- Evidence for oxidative/nitrosative stress in the pathogenesis of hepatic encephalopathyChantal Bemeur
Neuroscience Research Unit, Hôpital Saint Luc CHUM University of Montreal, Montreal, QC, Canada
Metab Brain Dis 25:3-9. 2010..However, evidence from studies in HE patients is limited. This review summarizes this evidence for a role of oxidative/nitrosative stress in relation to ammonia toxicity and to the pathogenesis of HE...
- Management of ornithine transcarbamylase deficiency in pregnancyHector Mendez-Figueroa
Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Baylor College of Medicine, Houston, TX 77030, USA
Am J Perinatol 27:775-84. 2010..A comprehensive plan for patients who develop hyperammonemia is recommended.
- Environmental heat stress, hyperammonemia and nucleotide metabolism during intermittent exerciseMagni Mohr
Institute of Exercise and Sport Sciences, Department of Human Physiology, August Krogh Institute, University of Copenhagen, Universitetsparken 13, 2100, Copenhagen Ø, Denmark
Eur J Appl Physiol 97:89-95. 2006....
- Proceedings of a consensus conference for the management of patients with urea cycle disordersM Summar
Division of Medical Genetics, Vanderbilt University, Nashville, Tennessee, USA
J Pediatr 138:S6-10. 2001..On the other hand, there are many issues on which the panel agreed. In many instances the availability of reliable information on the respective topics determined whether consensus could be reached...
- Cerebral glutamine metabolism under hyperammonemia determined in vivo by localized (1)H and (15)N NMR spectroscopyCristina Cudalbu
Laboratory for Functional and Metabolic Imaging, Center for Biomedical Imaging, Ecole Polytechnique Federale de Lausanne, Lausanne, Switzerland
J Cereb Blood Flow Metab 32:696-708. 2012..033±0.001 μmol/g per minute). These results showed an increase of GS and net glutamine accumulation under hyperammonemia, supporting the concept of their implication in cerebral ammonia detoxification.
- Continuous hemofiltration in the control of neonatal hyperammonemia: a 10-year experienceClaire Westrope
Department of Paediatric Intensive Care Medicine, Birmingham Children s Hospital, Steelhouse Lane, Birmingham B4 6NH, UK
Pediatr Nephrol 25:1725-30. 2010..review of the utilization of continuous veno-venous hemofiltration (CVVH) for the treatment of neonatal hyperammonemia, 14 patients were identified with hyperammonemia due to either a urea cycle defect or an organic acidemia...
- Hereditary urea cycle diseases in FinlandPäivi Keskinen
Department of Pediatrics, Tampere University Hospital, Tampere, Finland
Acta Paediatr 97:1412-9. 2008..To estimate the incidence of urea cycle diseases (UCDs) in Finland and determine the course of the various disorders as well as the outcome...
- Vaccines are not associated with metabolic events in children with urea cycle disordersThomas M Morgan
Department of Pediatrics Division of Genetics and Genomic Medicine, Vanderbilt University School of Medicine, DD 2205 Medical Center North, Nashville, TN 37232 2578, USA
Pediatrics 127:e1147-53. 2011..Patients with UCDs are subject to hyperammonemic episodes (HAEs) after infection, fever, or other stressors...
- Sequential activation of soluble guanylate cyclase, protein kinase G and cGMP-degrading phosphodiesterase is necessary for proper induction of long-term potentiation in CA1 of hippocampus. Alterations in hyperammonemiaPilar Monfort
Laboratory of Neurobiology, Instituto de Investigaciones Citologicas, Fundación Valenciana de Investigaciones Biomédicas FVIB, Amadeo de Saboya 4, 46010 Valencia, Spain
Neurochem Int 45:895-901. 2004..b>Hyperammonemia is the main responsible for the neurological alterations found in liver disease and hepatic encephalopathy, ..
- Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with late-onset ornithine transcarbamylase deficiencyHironori Nagasaka
Division of Metabolism, Chiba Children s Hospital, Chiba 266 0007, Japan
Eur J Pediatr 165:618-24. 2006..In addition to height and body weight, blood levels of proteins, lipids, growth hormone (GH), insulin-like growth factor-I (IGF-I) and IGF-binding protein -3 (IGFBP-3) were monitored...
- Cognitive outcome in urea cycle disordersAndrea L Gropman
Children s Research Institute, Children s National Medical Center, Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC 20010 2916, USA
Mol Genet Metab 81:S58-62. 2004..Such methods of investigation may serve as a model for studying the relationship between genes, biochemical markers, brain function, and behavior in other metabolic diseases...
- Remittent hyperammonemia in congenital portosystemic shuntGiovanni Battista Ferrero
Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126 Torino, Italy
Eur J Pediatr 169:369-72. 2010..We report the case of three boys with neuropsychological symptoms associated with mild fasting hyperammonemia. An oral protein load allowed the detection of a detoxication defect due to PSS related to PDV...
- Hyperammonemia and encephalopathy in patients with multiple myelomaGiampaolo Talamo
Am J Hematol 82:414-5. 2007
- Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndromeS Salvi
Molecular Medicine, IRCCS Bambino Gesù, Rome Italy
Hum Mutat 18:460. 2001Eight unrelated Italian patients with the hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome were analyzed for mutations in the ORNT1 gene. Seven novel mutations were identified (Q89X, G27R, G190D, R275Q, c.861insG, c...
- Hyperammonemia and coma without hepatic dysfunction induced by valproate therapyF Barrueto
Pitt County Memorial Hospital, Brody School of Medicine, East Carolina University, Greenville, NC, USA
Acad Emerg Med 8:999-1001. 2001..His coma and hyperammonemia were attributed to his chronic valproate therapy...
- Hyperammonemia increases GABAergic tone in the cerebellum but decreases it in the rat cortexOmar Cauli
Laboratory of Neurobiology, Centro de Investigacion Principe Felipe, Valencia, Spain
Gastroenterology 136:1359-67, e1-2. 2009..It has been proposed that hyperammonemia-induced increases in gamma-aminobutyric acid "(GABAergic) tone" contribute to the pathogenesis of hepatic ..
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysisZuhair N Al-Hassnan
Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia
J Neurol Sci 264:187-94. 2008Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder caused by mutations in ORNT1 gene that encodes a mitochondrial ornithine transporter...
- Hypothermia in acute liver failureRajiv Jalan
Liver Failure Group, Institute of Hepatology, London, United Kingdom
Metab Brain Dis 19:215-21. 2004..The present review explores the experimental and clinical data to define the role of hypothermia as a treatment modality for increased intracranial pressure in patients with acute liver failure...
- Clinical practice: the management of hyperammonemiaJohannes Haberle
Kinderspital Zurich, Division of Metabolism, University Children s Hospital Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland
Eur J Pediatr 170:21-34. 2011b>Hyperammonemia is a life-threatening condition which can affect patients at any age. Elevations of ammonia in plasma indicate its increased production and/or decreased detoxification...
- New insights on the mechanisms of valproate-induced hyperammonemia: inhibition of hepatic N-acetylglutamate synthase activity by valproyl-CoACátia C P Aires
Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry and Pediatrics, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
J Hepatol 55:426-34. 2011b>Hyperammonemia is a frequent side-effect of valproic acid (VPA) therapy, which points to an imbalance between ammoniagenesis and ammonia disposal via the urea cycle...
- A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: a pitfall in enzymatic diagnosis for hyperammonaemiaK Ihara
Department of Pediatrics, Graduate School of Medical Sciences, Kyusyu University, Fukuoka, Japan
J Inherit Metab Dis 28:681-7. 2005....
- Alternative-pathway therapy for hyperammonemiaVivian E Shih
N Engl J Med 356:2321-2. 2007
- Role of Helicobacter pylori infection in hyperammonemia and subclinical hepatic encephalopathy in cirrhosis of liverD Kini
Department of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow
Indian J Gastroenterol 20:237-40. 2001..CONCLUSION: Presence of H. pylori infection among patients with cirrhosis of liver but no overt hepatic encephalopathy is not associated with increase in blood ammonia concentration or deterioration in psychomotor function...
- Hyperammonemia in the pediatric emergency care settingNermeen M Galal
Emergency Department, Cairo University Specialized Pediatric Hospital, Cairo University, Cairo, Egypt
Pediatr Emerg Care 26:888-91. 2010b>Hyperammonemia is encountered frequently in acutely ill children presenting for emergency care with altered levels of consciousness (ALOC). Ammonia production, metabolism, and excretion are affected by different variables...
- Hyperammonemia in review: pathophysiology, diagnosis, and treatmentAri Auron
Blank Memorial Hospital for Children, Des Moines, IA 50309, USA
Pediatr Nephrol 27:207-22. 2012..A variety of environmental causes and medications may also lead to ammonia toxicity. Hyperammonemia refers to a clinical condition associated with elevated ammonia levels manifested by a variety of symptoms and ..
- Transient hyperammonemia due to urea cycle enzyme deficiency in Irish wolfhoundsM M J M Zandvliet
Department of Clinical Sciences of Companion Animal Medicine, Faculty of Veterinary Medicine, Utrecht University, The Netherlands
J Vet Intern Med 21:215-8. 2007..frequently have a congenital portosystemic shunt, but a considerable proportion of the 6- to 8-wk-old pups has hyperammonemia in the absence of portosystemic shunting...
- Genotype Analysis for Diagnosis of Urea Cycle DisordersSteven Dobrowolski; Fiscal Year: 2007..b>Hyperammonemia is the primary phenotype of urea cycle defects but differentiating individual gene deficiencies within the ..
- Mice Humanized with Hepatocytes and iPS Cells from Patients with Metabolic DiseasStephen C Strom; Fiscal Year: 2010..of protein, while severely affected human patients require severe protein restriction to prevent lethal hyperammonemia. Mice (and rats) are particularly poor models for studying liver fibrosis and cirrhosis, common features of ..
- REGULATION OF 15N UREA ISOTOPOMERS PRODUCTIONItzhak Nissim; Fiscal Year: 2013Impaired urea synthesis and consequent hyperammonemia (HA) are common occurrences in disorders of congenital defects of the urea cycle and of fatty acid oxidation (FAO), nonalcoholic fatty liver disease (NAFLD) and/or "Metabolic Syndrome"..
- REGULATION OF 15N UREA ISOTOPOMERS PRODUCTIONItzhak Nissim; Fiscal Year: 2009Impaired urea synthesis and consequent hyperammonemia may occur secondary to inborn errors of the urea cycle, treatment with certain drugs or faulty hepatic fatty acid oxidation (FAO), fatty liver or "Metabolic Syndrome" (MS)...
- Pathophysiology and Gene Replacement Strategies for Arginase DeficiencyGerald S Lipshutz; Fiscal Year: 2013..clinically by progressive mental impairment, spasticity, growth retardation, and periodic episodes of hyperammonemia. This proposal is two-fold: 1) to develop gene-based correction of arginase deficiency with viral vectors and ..
- Comparative Efficacy of Phenylbutyrate vs. Benzoate in Urea Cycle DisordersJuan Marini; Fiscal Year: 2013..The reduction in the hepatic capacity to detoxify ammonia in Urea Cycle Disorders (UCD) patients results in hyperammonemia that causes irritability, lethargy, cerebral edema, seizures and coma that can lead to death...
- Rare Diseases Clinical Research Consortia (RDCRC) for the RDCR NetworkMark L Batshaw; Fiscal Year: 2013..lyase (AL) deficiency (Argininosuccinic aciduria);Arginase (ARG) deficiency (Argininemia);Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome;and Citrullinemia type II...
- N-acetylglutamate Synthase: Structure, Function &DefectsMendel Tuchman; Fiscal Year: 2012..The deficiency of NAG in inherited NAGS deficiency, organic acidemias and valproate treatment causes hyperammonemia that frequently leads to brain damage, developmental disabilities and death...
- Gene Therapy for Urea Cycle DisordersJames M Wilson; Fiscal Year: 2013..before considering clinical trials in those with severe OTCD who present with life-threatening episodes of hyperammonemia as neonates...
- METHAMPHETAMINE TOXICITY AND CORTICOSTRIATAL GLUTAMATEBryan K Yamamoto; Fiscal Year: 2013..The key mediator of HE is hyperammonemia. Ammonia (NH3) causes neuronal damage through mechanisms strikingly similar to excitotoxicity and oxidative ..
- Intestinal Epithelia Ammonium TransportRoger T Worrell; Fiscal Year: 2012..poorly understood, this despite the well known impact of portal vein NH4+ concentration in the development of hyperammonemia in liver disease...
- Mechanisms of Malnutrition in Cirrhosis with Portosystemic ShuntingSrinivasan Dasarathy; Fiscal Year: 2013..b>Hyperammonemia is a consistent abnormality in cirrhosis and PSS due to impaired hepatic detoxification of ammonia...
- Planning a Multicenter Cooling Trial for Hyperammonemic Metabolic CrisesDAVID LLOYD WESSEL; Fiscal Year: 2013..conduct of a randomized clinical trial of therapeutic hypothermia as adjunct therapy in young children with hyperammonemia associated encephalopathy resulting from urea cycle disorders (UCDs) or organic acidemias (OAs)...
- Urea Cycle Disorders Satellite Symposium: 11th International Meeting BRENDAN HL LEE; Fiscal Year: 2012..Chronic and acute episodes of hyperammonemia in children with partial defects result in cognitive and neurological deficits...
- Neuroprotection from hyperammonemia: small molecule screenMendel Tuchman; Fiscal Year: 2013DESCRIPTION (provided by applicant): Hyperammonemia caused either by inborn errors of metabolism, liver failure or extreme catabolic stress can be life threatening and can cause severe brain damage resulting in intellectual and ..
- Urea Cycle Disorders Satellite Symposium to the 12th ICIEMMarshall L Summar; Fiscal Year: 2013..Chronic and acute episodes of hyperammonemia in children with partial defects result in cognitive and neurological deficits...
- BACTERIAL UREASE IN THE CATHETERIZED URINARY TRACTHARRY MOBLEY; Fiscal Year: 1990..bacilli isolated produced the enzyme urease which has been implicated in pyelonephritis, hepatic coma, hyperammonemia, complement inactivation, and kidney and bladder stone formation...
- Genotype Analysis for Diagnosis of Urea Cycle DisordersSteven Dobrowolski; Fiscal Year: 2005..Unequivocal and rapid diagnosis of UCDs is difficult because hyperammonemia, the primary biochemical phenotype, is not specific to UCDs being observed in broad categories of metabolic ..
- CEREBROVASCULAR ALTERATIONS DURING HYPERAMMONEMIARaymond Koehler; Fiscal Year: 2000b>Hyperammonemia with or without liver disease results in swollen astrocytes and large increases in brain glutamine levels. Ammonia is metabolized by an active glutamine synthetase pool localized in astrocytes...
- INBORN ERRORS--MOLECULAR ANALYSIS IN CULTURED CELLSLeon Rosenberg; Fiscal Year: 1990..CS) deficiency; methylmalonic acidemia, due to methylmalonyl CoA mutase apoenzyme (MUT) deficiency; hyperammonemia, due to ornithine transcarbamylase (OTC) deficiency; and propionic acidemia, due to propionyl CoA carboxylase (..
- Beta Catenin Regulation of Skeletal Muscle HypertrophyKARYN ANN ESSER; Fiscal Year: 2013..This work has found that hyperammonemia caused by cirrhosis leads to sarcopenia as the result of increased myostatin expression and decreased protein ..
- MARINE AND FRESHWATER BIOMEDICAL SCIENCES CENTERLora Fleming; Fiscal Year: 2006..of development: Damselfish Neurofibromatosis, Cultured Human Schwann Cells, Aplysia Neurophysiology, Toadfish Hyperammonemia, Transgenic Fishes, Squirrelfish Zinc Metabolisin/Transport, Fish Immunology arid Sentinel Species...
- HEPATIC COMA--GLIAL BENZODIAZEPINE RECEPTORS & STEROIDSMichael Norenberg; Fiscal Year: 2000..They further propose that the elevation of neurosteroids result from an upregulation of astrocytic PBR by the hyperammonemia associated with liver failure...
- HYPERAMMONEMIA AND CANCER ANOREXIAWILLIAM CHANCE; Fiscal Year: 1990..These experiments should delineate specific causes of anorexia in cancer and suggest several therapeutic options...
- Extreme Ammonia Tolerance Mechanisms: A Model VertebratePatrick Walsh; Fiscal Year: 2004Hepatic Encephalopathy (HE), and resultant elevated blood and tissue ammonia concentrations (i.e., hyperammonemia, HA), has profound central nervous system (CNS) effects, and can have environmental causes...
- Cell Volume Regulation in Neurons and GliaFRANCISCO ALVAREZ LEEFMANS; Fiscal Year: 2006..implications of this research stem from the fact that millimolar concentrations of NH3/NH4+ in arterial blood (hyperammonemia) are a key factor in producing brain edema characteristic of acute liver failure, a condition that may occur ..
- N-carbamylglutamate in the treatment of hyperammonemiaMendel Tuchman; Fiscal Year: 2013..provided by applicant): The overall objective of this project is to determine whether treatment of acute hyperammonemia with N-carbamyl-L-glutamate (NCG) in propionic acidemia (PA), methylmalonic acidemia (MMA), carbamyl phosphate ..
- GENE THERAPY FOR ORNITHINE TRANSCARBAMYLASE DEFICIENCYMark Batshaw; Fiscal Year: 1999..on treatment of the acute hyperammonemic crisis by transient expression of OTC, and long-term prevention of hyperammonemia by stable correction of OTCD...
- UREA CYCLE ENZYMOPATHIESSAUL BRUSILOW; Fiscal Year: 1991..The role of the intravenous dosage form of these drugs on the hyperammonemia of Reye's syndrome will also be evaluated...
- NEUROTRANSMITTERS, APPETITE & INBORN METABOLISM ERRORSMark Batshaw; Fiscal Year: 1991..errors of urea synthesis, and in epileptic patients receiving the anticonvulsant valproate which induces hyperammonemia will be studied...
- BACULOVIRAL VECTORS FOR UREA CYCLE DISORDERSFrederick Boyce; Fiscal Year: 2000..Inborn errors of metabolism involving enzymes of the urea cycle may lead to hyperammonemia, coma, mental retardation, and sometimes death...
- STRUCTURE/FUNCTION OF CARBAMYL PHOSPHATE SYNTHETASECAROL LUSTY; Fiscal Year: 2001..Lesions in the human NH3-dependent enzyme either are lethal or lead to hyperammonemia, hepatic coma, and CNS damage. New directed enzyme therapies are continually being developed...
- BIOCHEMICAL APPROACH TO NMDA RECEPTORS & EXCITOTOXICITYDavid Lynch; Fiscal Year: 1999..including hypoxic-ischemic damage, Huntington's disease, secondary damage from head trauma, glutaric acidemia, hyperammonemia and other central nervous system disorders...
- CEREBRAL GLUTAMATE CONTROL BY IN VIVO 15N MRBrian Ross; Fiscal Year: 1999..Studies will also be performed under selected conditions which were chosen for possible clinical relevance: hyperammonemia, steroid therapy, and after inhibition of the glutarnate transporter by an antisense oligonucleotide.
- COMMON POLYMORPHISM EFFECTS ON UREA CYCLE FUNCTIONMarshall Summar; Fiscal Year: 2001..b>Hyperammonemia, however, is much more common and is associated with non-genetic conditions and environmental exposures...
- ISLET DYSREGULATION IN INFANTSCharles Stanley; Fiscal Year: 2008..The results of this research will provide essential information for improving the diagnosis and treatment of HI children and for understanding the basis of insulin regulation in normal humans. ..
- MOLECULAR BASIS OF A NEW FORM OF HYPERINSULINISMCHARLES ALFRED STANLEY; Fiscal Year: 2010..Previous years focused on the mechanisms of the hyperinsulinism / hyperammonemia syndrome associated with dominant, gain of function mutations of glutamate dehydrogenase (GDH)...
- International Medical Conference of Congenital HyperinsulinismCharles Stanley; Fiscal Year: 2006..unreadable] [unreadable] [unreadable]..
- Ped Endocrine Career Development in Diabetes ResearchCharles Stanley; Fiscal Year: 2007..The Program is strongly supported by access to a superb range of institutional resources, including the CHOP GCRC and the UPenn DERC. Request is made for 2 Appointee slots in this Program each year. ..
- Transcriptional Regulation of Craniofacial SkeletogenesisBrendan Lee; Fiscal Year: 2009....
- TRANSCRIPTIONAL REGULATORS IN CHONDROGENESISBrendan Lee; Fiscal Year: 2002....
- Adenoviral hepatocyte gene therapy in CitrullinemiaBrendan Lee; Fiscal Year: 2005..This urea cycle disorder is characterized by severe neurologic morbidity associated with hyperammonemia which may present in both neonates, children, and adults...
- ENTERAL PRECURSORS FOR UREA SYNTHESIS IN HUMANSBrendan Lee; Fiscal Year: 2006..In addition it is anticipated that the results will benef it other individuals who have compromised protein metabolism. ..
- In vivo function and tolerance to Factor VIII variantsBRENDAN HL LEE; Fiscal Year: 2011..abstract_text> ..
- Dysregulation of 3-prolyl-hydroxylation in Human Skeletal DysplasiasBRENDAN HL LEE; Fiscal Year: 2010..e., the in vivo phenotypic and biochemical consequences of dysregulation of the 3-prolyl-hydroxylation machinery. ..
- GENETIC & ENVIRONMENTAL DETERMINANTS OF CRANIOFACIAL DISBrendan Lee; Fiscal Year: 2005..Together, these studies will identify genes important in pathogenesis of human malformation and elucidate their modes of action in both cell autonomous and cell non-autonomous models mechanisms of development. ..
- Pathophysiological Interpretations of Dynamic PET/CT of Molecular Liver BiologySusanne Keiding; Fiscal Year: 2010..This will lead to improved diagnosis and treatment of the large groups of patients with liver disease and cancer in the liver. ..
- The molecular bases of inherited urea cycle disorders and ureagenesis regulationMendel Tuchman; Fiscal Year: 2010..The mouse and human N-acetylglutamate synthase (NAGS) genes were identified and cloned and mutations causing hyperammonemia were identified...
- MECHANISM OF GLUTATHIONE CONJUGATE DEPENDENT TOXICITYArthur Cooper; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- AUTISM--A MODEL OF ANOMALOUS NEURAL SYSTEMS DEVELOPMENTPauline Filipek; Fiscal Year: 2001....
- FUNCTIONAL METABOLIC ACTIVITY IN GLIA IN VIVOGerald Dienel; Fiscal Year: 2003..abstract_text> ..
- Transcription Factors & Inflammatory Mediators in StrokeRaghu Vemuganti; Fiscal Year: 2007..The ultimate goal is to define the role of SOCS-3/STAT-3 in post-ischemic cerebral inflammation. ..
- Arginine and Ovine Model for Fetal Growth RestrictionGuoyao Wu; Fiscal Year: 2007..This will ultimately promote favorable pregnancy outcomes while saving billions of healthcare dollars in the U.S. and worldwide. [unreadable] [unreadable] [unreadable]..
- Mechanisms of glutamate dehydrogenase allosteryThomas Smith; Fiscal Year: 2008..regulation by our finding that mutations that affect GTP inhibition are the root cause of the hyperinsulinism/hyperammonemia (HI//HA) syndrome in children...
- Anaplerotic therapy in Propionic AcidemiaNicola Longo; Fiscal Year: 2008..whether nutritional supplements capable of filling-up the citric acid cycle (anaplerotic therapy) can improve hyperammonemia, glutamine levels, and outcome in patients with propionic acidemia...
- Role of Egr-1 in post-stroke inflammation & brain damageRaghu Vemuganti; Fiscal Year: 2009..The ultimate goal is to define the role of EgM and its regulators to develop therapies to control cerebral inflammation at the level of transcription. ..
- Towards a Vaccine for the Common ColdTHOMAS JAMES SMITH; Fiscal Year: 2010..If successful, the methods developed here will also yield a rapid way to identify potential, conserved, vaccine targets for other antigenically diverse viruses as well. ..
- NMR Studies of Brain Energetics & Hypoglycemia In VivoKevin Behar; Fiscal Year: 2009....
- Parkinsons disease:visual dysfunction and hallucinationsSuzanne Holroyd; Fiscal Year: 2005..The results may also increase our understanding of visual hallucinations in other disorders. Conceivably, such knowledge could lead to strategies to prevent, minimize or treat such symptoms. ..
- STRUCTURAL STUDIES OF PROTEIN SUBUNITSThomas Smith; Fiscal Year: 2004..These studies have the potential of changing the way we view the early steps in the viral infection process and will allow us to develop tools that are applicable to other viral systems. ..
- FUNCTIONAL METABOLISM IN WORKING BRAINGerald Dienel; Fiscal Year: 2007..abstract_text> ..
- MITOCHONDRIAL DNA ANALYSIS IN CYCLIC VOMITING SYNDROMERichard Boles; Fiscal Year: 2002..An extensive amount of clinical and laboratory data will be collected in all patients, allowing for the comparison of CVS sufferers with and without mtDNA mutations. ..