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Hyperammonemia

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https://www.readbyqxmd.com/read/28940506/molecular-and-clinical-spectra-of-fbxl4-deficiency
#1
Ayman W El-Hattab, Hongzheng Dai, Mohammed Almannai, Julia Wang, Eissa A Faqeih, Ali Al Asmari, Mohammed A M Saleh, Mohammed A O Elamin, Majid Alfadhel, Fowzan S Alkuraya, Mais Hashem, Mazhor S Aldosary, Rawan Almass, Faten B Almutairi, Maysoon Alsagob, Mohammed Al-Owain, Shirin Al-Sharfa, Zuhair N Al-Hassnan, Zuhair Al Rahbeeni, Mohammed A Al-Muhaizea, Nawal Makhseed, Gretchen K Foskett, David A Stevenson, Natalia Gomez-Ospina, Chung Lee, Richard G Boles, Samantha A Schrier Vergano, Saskia B Wortmann, Wolfgang Sperl, Thomas Opladen, Georg F Hoffmann, Maja Hempel, Holger Prokisch, Bader Alhaddad, Johannes A Mayr, Wenyaw Chan, Namik Kaya, Lee-Jun C Wong
F-box and leucine-rich repeat protein 4 (FBXL4) is a mitochondrial protein whose exact function is not yet known. However, cellular studies have suggested that it plays significant roles in mitochondrial bioenergetics, mitochondrial DNA (mtDNA) maintenance, and mitochondrial dynamics. Biallelic pathogenic variants in FBXL4 are associated with an encephalopathic mtDNA maintenance defect syndrome that is a multisystem disease characterized by lactic acidemia, developmental delay, and hypotonia. Other features are feeding difficulties, growth failure, microcephaly, hyperammonemia, seizures, hypertrophic cardiomyopathy, elevated liver transaminases, recurrent infections, variable distinctive facial features, white matter abnormalities and cerebral atrophy found in neuroimaging, combined deficiencies of multiple electron transport complexes, and mtDNA depletion...
September 22, 2017: Human Mutation
https://www.readbyqxmd.com/read/28939132/peak-hyperammonemia-and-atypical-acute-liver-failure-the-eruption-of-an-urea-cycle-disorder-during-hyperemesis-gravidarum
#2
REVIEW
Nicolas Weiss, Fanny Mochel, Marika Rudler, Sophie Demeret, Pascal Lebray, Filomena Conti, Damien Galanaud, Chris Ottolenghi, Jean-Paul Bonnefont, Marc Dommergues, Jacques Bernuau, Dominique Thabut
BACKGROUND: Inborn urea cycle deficiencies are under-recognized metabolic causes of hyperammonaemia in adults. METHODS: A 28-year-old primigravida, 7-week pregnant woman affected by hyperemesis gravidarum developed acute liver injury and then acute liver failure (ALF) in less than 48 hours. RESULTS: Because the patient developed atypical features, especially mildly elevated serum transaminases contrasting with very high blood ammonia levels (281 μmol/l), concomitant with normal serum creatinine, an inborn error of metabolism was suspected...
September 19, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28919721/profile-of-sodium-phenylbutyrate-granules-for-the-treatment-of-urea-cycle-disorders-patient-perspectives
#3
REVIEW
Luis Peña-Quintana, Marta Llarena, Desiderio Reyes-Suárez, Luis Aldámiz-Echevarria
Urea-cycle disorders are a group of rare hereditary metabolic diseases characterized by deficiencies of one of the enzymes and transporters involved in the urea cycle, which is necessary for the removal of nitrogen produced from protein breakdown. These hereditary metabolic diseases are characterized by hyperammonemia and life-threatening hyperammonemic crises. Pharmacological treatment of urea-cycle disorders involves alternative nitrogen-scavenging pathways. Sodium benzoate combines with glycine and phenylacetate/phenylbutyrate with glutamine, forming, respectively, hippuric acid and phenylacetylglutamine, which are eliminated in the urine...
2017: Patient Preference and Adherence
https://www.readbyqxmd.com/read/28912724/abnormalities-in-the-polysomnographic-adenosine-and-metabolic-response-to-sleep-deprivation-in-an-animal-model-of-hyperammonemia
#4
Selena Marini, Olena Santangeli, Pirjo Saarelainen, Benita Middleton, Namrata Chowdhury, Debra J Skene, Rodolfo Costa, Tarja Porkka-Heiskanen, Sara Montagnese
Patients with liver cirrhosis can develop hyperammonemia and hepatic encephalopathy (HE), accompanied by pronounced daytime sleepiness. Previous studies with healthy volunteers show that experimental increase in blood ammonium levels increases sleepiness and slows the waking electroencephalogram. As ammonium increases adenosine levels in vitro, and adenosine is a known regulator of sleep/wake homeostasis, we hypothesized that the sleepiness-inducing effect of ammonium is mediated by adenosine. Eight adult male Wistar rats were fed with an ammonium-enriched diet for 4 weeks; eight rats on standard diet served as controls...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28912414/polish-experience-with-liver-transplantation-and-post-transplant-outcomes-in-children-with-urea-cycle-disorders
#5
Edyta Szymańska, Piotr Kaliciński, Joanna Pawłowska, Sylwia Szymańska, Maciej Pronicki, Marek Stefanowicz, Joanna Teisseyre, Dorota Broniszczak, Dariusz Rokicki
BACKGROUND Liver transplantation (LT) is recommended for various metabolic diseases, including urea cycle disorders (UCDs). The aim of this study was to determine indications and outcomes of LT for UCDs in the tertiary reference Children's Hospital in Warsaw, Poland. MATERIAL AND METHODS Medical charts of children with UCD who underwent LT between 2008 and July 2016 were retrospectively reviewed. The following parameters were analyzed: symptoms at time of diagnosis, age at diagnosis, age at transplantation, graft characteristics and survival, postsurgical complications, and biochemical and laboratory results before and after transplantation...
September 15, 2017: Annals of Transplantation: Quarterly of the Polish Transplantation Society
https://www.readbyqxmd.com/read/28911206/identification-of-the-molecular-dysfunction-caused-by-glutamate-dehydrogenase-s445l-mutation-responsible-for-hyperinsulinism-hyperammonemia
#6
Mariagrazia Grimaldi, Melis Karaca, Livia Latini, Estelle Brioudes, Thomas Schalch, Pierre Maechler
Congenital hyperinsulinism/hyperammonemia (HI/HA) syndrome gives rise to unregulated protein-induced insulin secretion from pancreatic beta-cells, fasting hypoglycemia and elevated plasma ammonia levels. Mutations associated with HI/HA were identified in the Glud1 gene, encoding for glutamate dehydrogenase (GDH). We aimed at identifying the molecular causes of dysregulation in insulin secretion and ammonia production conferred by the most frequent HI/HA mutation Ser445Leu. Following transduction with adenoviruses carrying the human GDH-wild type or GDH-S445L-mutant gene, immunoblotting showed efficient expression of the transgenes in all the investigated cell types...
September 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28875419/lactulose-decreases-neuronal-activation-and-attenuates-motor-behavioral-deficits-in-hyperammonemic-rats
#7
Natália Ferreira Mendes, Flora França Nogueira Mariotti, José Simões de Andrade, Milena de Barros Viana, Isabel Cristina Céspedes, Márcia Regina Nagaoka, Luciana Le Sueur-Maluf
Lactulose is a nonabsorbable disaccharide commonly used in clinical practice to treat hepatic encephalopathy. However, its effects on neuropsychiatric disorders and motor behavior have not been fully elucidated. Male Wistar rats were bile-duct ligated, and 3 weeks after surgery, treated with lactulose administrated by gavage (1.43 or 3.57 g/kg), once a day for seven days. Plasma levels of ammonia, aspartate aminotransferase, total bilirubin, and creatinine were quantified and histopathological analysis of the livers was performed...
September 5, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28859230/continuous-renal-replacement-therapy-is-associated-with-reduced-serum-ammonia-levels-and-mortality-in-acute-liver-failure
#8
Filipe S Cardoso, Michelle Gottfried, Shannan Tujios, Jody C Olson, Constantine J Karvellas
BACKGROUND: Hyperammonemia has been associated with intracranial hypertension and mortality in patients with acute liver failure (ALF). We evaluated the effect of renal replacement therapy (RRT) on serum ammonia level and outcomes in ALF. METHODS: Multicenter cohort study of consecutive ALF patients from the United States ALF Study Group registry between 01/1998-12/2016. Firstly, we studied the association of ammonia with hepatic encephalopathy (HE) and 21-day transplant-free survival (TFS) (n=1186)...
August 31, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28838986/ammonia-modifies-enteric-neuromuscular-transmission-through-glial-gamma-aminobutyric-acid-signaling
#9
David E Fried, Ralph E Watson, Simon C Robson, Brian D Gulbransen
OBJECTIVE: Impaired gut motility may contribute, at least in part, to the development of systemic hyperammonemia and systemic neurological disorders in inherited metabolic disorders, or in severe liver and renal disease. It is not known whether enteric neurotransmission regulates intestinal luminal and hence systemic ammonia levels by induced changes in motility. DESIGN: Here, we propose and test the hypothesis that ammonia acts through specific enteric circuits to influence gut motility...
August 24, 2017: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/28815739/kernicterus-in-a-boy-with-ornithine-transcarbamylase-deficiency-a-case-report
#10
Eduardo López-Corella, Isabel Ibarra-González, Cynthia Fernández-Lainez, Miguel Á Rodríguez-Weber, Sara Guillén-Lopez, Leticia Belmont-Martínez, David Agüero-Linares, Marcela Vela-Amieva
Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle defect associated with severe and usually fatal hyperammonemia. This study describes a patient with early onset lethal OTCD due to a known pathogenic variant (c.298+1G>A), as well as the novel autopsy finding of kernicterus with relatively low blood concentration of unconjugated bilirubin (UCB) (11.55 mg/dL). The patient was a full-term male with a family history of two previous male siblings who died as newborns after acute neurologic deterioration...
August 16, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28813782/urea-cycle-pathway-targeted-therapeutic-action-of-naringin-against-ammonium-chloride-induced-hyperammonemic-rats
#11
Arumugam Ramakrishnan, Natesan Vijayakumar
Ammonia is a well-known neurotoxin that causes liver disease and urea cycle disorder. Excessive ammonia content in the blood leads to hyperammonemic condition and affects both excitatory and inhibitory neurotransmission including brain edema and coma. Naringin, a plant bioflavonoid present in various citrus fruits and mainly extracted from the grape fruit. This study was designed to assess the protective effect of naringin on ammonium chloride (NH4Cl) induced hyperammonemic rats. Experimental hyperammonemia was induced by intraperitoneal injections (i...
October 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28811686/influence-of-the-flavonoid-quercetin-on-antioxidant-status-lipid-peroxidation-and-histopathological-changes-in-hyperammonemic-rats
#12
Sivamani Kanimozhi, Pakkiri Bhavani, Perumal Subramanian
We have studied the ability of quercetin (a bioflavonoid) in tackling oxidative stress to alleviate the symptoms during ammonium chloride-induced hyperammonemia. Hyperammonemia was induced by the treatment of ammonium chloride (AC) 100 mg/kg b.w for 56 days. Hyperammonemic rats exhibited reduced urea (in plasma) and increased ammonia (in blood), uric acid (in plasma), creatinine (in serum), oxidative stress markers (thiobarbituric acid reactive substances (TBARS) and hydroperoxides (HP) and decreased levels of antioxidants (enzymatic and non-enzymatic) superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GPx), reduced glutathione (GSH) in plasma and tissues (liver and brain) vitamins E and C (in plasma))...
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28801579/tnf%C3%AE-induced-up-regulation-of-na-k-2cl-cotransporter-nkcc1-in-hepatic-ammonia-clearance-and-cerebral-ammonia-toxicity
#13
Vitaly I Pozdeev, Elisabeth Lang, Boris Görg, Hans J Bidmon, Prashant V Shinde, Gerald Kircheis, Diran Herebian, Klaus Pfeffer, Florian Lang, Dieter Häussinger, Karl S Lang, Philipp A Lang
The devastating consequences of hepatic failure include hepatic encephalopathy, a severe, life threatening impairment of neuronal function. Hepatic encephalopathy is caused by impaired hepatic clearance of NH4(+). Cellular NH4(+) uptake is accomplished mainly by the Na(+),K(+),2Cl(-) cotransporter. Here we show that hepatic clearance of NH4(+) is impaired in TNFα deficient as well as TNFR1&TNFR2 double knockout mice, which both develop hyperammonemia. Despite impaired hepatic clearance of NH4(+), TNFα deficient mice and TNFR1 deficient mice were protected against acute ammonia intoxication...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28782476/a-case-of-capecitabine-induced-hyperammonemia-in-a-patient-with-colon-cancer
#14
Wentong Fang, Yuanyuan Fu, Ji-Fu Wei
BACKGROUND: Hyperammonemia is an infrequent adverse drug reaction (ADR) of chemotherapy. A few cases of 5-fluorouracil (5-FU) related hyperammonemia have been reported. OBJECTIVE: However, hyperammonemia induced by capecitabine, an oral prodrug of 5-FU, has not been reported till date. A patient with colon cancer was treated with CapeOx(oxaliplatin 200mg, day 1; capecitabine 1.5g bid, days 1-14). On the fifth day of first cycle chemotherapy, she developed hyperammonemia(240 μmol/L) and psychiatric symptoms...
August 7, 2017: Current Drug Safety
https://www.readbyqxmd.com/read/28751644/minimal-hepatic-encephalopathy-is-associated-with-expansion-and-activation-of-cd-4-cd28-th22-and-tfh-and-b-lymphocytes
#15
Alba Mangas-Losada, Raquel García-García, Amparo Urios, Desamparados Escudero-García, Joan Tosca, Remedios Giner-Durán, Miguel Angel Serra, Carmina Montoliu, Vicente Felipo
Peripheral inflammation acts synergistically with hyperammonemia in inducing neurological alterations in cirrhotic patients with minimal hepatic encephalopathy (MHE). We hypothesized that appearance of MHE would be associated to some specific qualitative change in peripheral inflammation. The aim of this work was to characterize the changes in peripheral inflammation associated to appearance of MHE. We analyzed it by immunophenotyping and cytokine profile analysis, in cirrhotic patients without or with MHE and controls...
July 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28751323/a-case-of-severe-neonatal-hyperammonemia
#16
Roy W A Peake, Edward G Neilan
No abstract text is available yet for this article.
August 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28750687/extracellular-vesicles-from-human-liver-stem-cells-restore-argininosuccinate-synthase-deficiency
#17
Maria Beatriz Herrera Sanchez, Sara Previdi, Stefania Bruno, Valentina Fonsato, Maria Chiara Deregibus, Sharad Kholia, Sara Petrillo, Emanuela Tolosano, Rossana Critelli, Marco Spada, Renato Romagnoli, Mauro Salizzoni, Ciro Tetta, Giovanni Camussi
BACKGROUND: Argininosuccinate synthase (ASS)1 is a urea cycle enzyme that catalyzes the conversion of citrulline and aspartate to argininosuccinate. Mutations in the ASS1 gene cause citrullinemia type I, a rare autosomal recessive disorder characterized by neonatal hyperammonemia, elevated citrulline levels, and early neonatal death. Treatment for this disease is currently restricted to liver transplantation; however, due to limited organ availability, substitute therapies are required...
July 27, 2017: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/28745680/-the-decreased-level-of-plasma-carnitine-in-patients-with-epilepsy
#18
E D Belousova
Antiepileptic drugs (AEDs) have long been known to affect carnitine metabolism, dropping the plasma free carnitine. Valproate (VPA) was considered to be the strongest carnitine-reducing agent. VPA-induced hyperammonemic encephalopathy and hepatotoxicity are well known, and pre-existing carnitine deficiency can be a predisposing factor, especially in congenital metabolic disorders. Several studies have shown that carnitine supplementation in patients receiving VPA to result in subjective and objective improvements and to prevent VPA-induced hepatotoxicity and encephalopathy, in parallel with increases in carnitine serum concentrations...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28741381/the-relationship-between-serum-ammonia-level-and-neurologic-complications-in-patients-with-acute-glufosinate-ammonium-poisoning-a-prospective-observational-study
#19
Y S Cha, H Kim, Y Lee, E H Choi, H I Kim, O H Kim, K-C Cha, K H Lee, S O Hwang
Glufosinate ammonium poisoning can cause neurological complications even after a symptom-free period. We prospectively investigated the predictors of neurologic complications in acute glufosinate ammonium poisoning and the change of serum ammonia level as a predictor of patient's presence and recovery of neurologic complication. This prospective observational study collected data from consecutive patients diagnosed with acute glufosinate ammonium poisoning between September 2014 and June 2016. Serum ammonia was serially measured...
January 1, 2017: Human & Experimental Toxicology
https://www.readbyqxmd.com/read/28728499/acute-central-nervous-system-complications-and-ammonium-levels-in-adult-patients-with-acute-lymphoblastic-leukemia-receiving-l-asparaginase
#20
Nicole Strickler, Stefan Balabanov, Katharina Casauro, Urs Schanz, Markus G Manz, Bernhard Gerber
We analyzed ammonium levels and acute central nervous complications in adult patients receiving chemotherapy for acute lymphoblastic leukemia with or without asparaginase (l-asp). Twenty patients with a median age of 40.3 years were included. Ammonium-levels were measured during 88 chemotherapy cycles, 60 cycles (68%) with l-asp, and 28 cycles (32%) without l-asp. Ammonium was elevated in 87% of all l-asp containing cycles, with median ammonium levels of 169 μmol/l (interquartile range (IQR) 91-269 μmol/l)...
July 21, 2017: Leukemia & Lymphoma
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