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Hyperammonemia

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https://www.readbyqxmd.com/read/29773863/low-prevalence-of-argininosuccinate-lyase-deficiency-among-inherited-urea-cycle-disorders-in-korea
#1
Dahye Kim, Jung Min Ko, Yoon-Myung Kim, Go Hun Seo, Gu-Hwan Kim, Beom Hee Lee, Han-Wook Yoo
Argininosuccinic aciduria (ASA), which is considered to be the second most common urea cycle disorder (UCD), is caused by an argininosuccinate lyase deficiency and is biochemically characterized by elevation of argininosuccinic acid and arginine deficiency. In addition to hyperammonemia, other characteristic features of ASA include hepatic fibrosis, hypertension, neurocognitive deficiencies, and trichorrhexis nodosa. Herein, we retrospectively reviewed the clinical findings, biochemical profiles, and genotypic characteristics of five Korean patients with ASA, who showed typical phenotypes and biochemical findings of the disease...
May 17, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29769109/valproate-induced-hyperammonemia-uncovering-an-underlying-inherited-metabolic-disorder-a-case-report
#2
Shaine Mehta, Sarrah Tayabali, Robin Lachmann
BACKGROUND: Sodium valproate is a commonly used anticonvulsant. It is widely recognized that valproate can cause hyperammonemia, particularly in people with underlying liver disease. Patients with urea cycle disorders are genetically predisposed to this adverse event and can develop severe hyperammonemia if given valproate. This can occur even if liver functions tests and plasma concentration of valproate are normal, highlighting the importance of checking ammonia levels in any patient presenting with encephalopathy...
May 17, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29734664/blood-ammonia-as-a-possible-etiological-agent-for-alzheimer-s-disease
#3
REVIEW
Yan Yan Jin, Parul Singh, Hea-Jong Chung, Seong-Tschool Hong
Alzheimer’s disease (AD), characterized by cognitive decline and devastating neurodegeneration, is the most common age-related dementia. Since AD is a typical example of a complex disease that is affected by various genetic and environmental factors, various factors could be involved in preventing and/or treating AD. Extracellular accumulation of beta-amyloid peptide (Aβ) and intracellular accumulation of tau undeniably play essential roles in the etiology of AD. However, interestingly enough, medications targeting Aβ or tau all failed and the only clinically efficient medications for AD are drugs targeting the cholinergic pathway...
May 4, 2018: Nutrients
https://www.readbyqxmd.com/read/29726081/liver-transplantation-for-neonatal-onset-citrullinemia
#4
Roshni Vara, Anil Dhawan, Maesha Deheragoda, Stephanie Grünewald, Germaine Pierre, Nigel D Heaton, Hector Vilca-Melendez, Nedim Hadžić
Citrullinemia or ASS deficiency in its classical form presents in the neonatal period with poor feeding, hyperammonemia, encephalopathy, seizures, and if untreated can be fatal. Despite advances in medical therapy, neurocognitive outcomes remain suboptimal. LT has emerged as a potential management option. A retrospective single-center review identified 7 children with a median age of 1.1 years (range, 0.6-5.8) at referral. Five children presented clinically, and 2 were treated prospectively from birth due to positive family history...
May 3, 2018: Pediatric Transplantation
https://www.readbyqxmd.com/read/29726057/mutations-and-common-variants-in-the-human-arginase-1-arg1-gene-impact-on-patients-diagnostic-and-protein-structure-considerations
#5
Carmen Diez-Fernandez, Véronique Rüfenacht, Corinne Gemperle, Ralph Fingerhut, Johannes Häberle
The urea cycle disorder argininemia is caused by a defective arginase 1 (ARG1) enzyme resulting from mutations in the ARG1 gene. Patients generally develop hyperargininemia, spastic paraparesis, progressive neurological and intellectual impairment and persistent growth retardation. Interestingly, in contrast to other urea cycle disorders, hyperammonemia is rare. We report here 66 mutations (12 of which are novel), including 30 missense mutations, 7 nonsense, 10 splicing, 15 deletions, two duplications, one small insertion and one translation initiation codon mutation...
May 3, 2018: Human Mutation
https://www.readbyqxmd.com/read/29725955/analysis-of-cerebral-blood-flow-and-intracranial-hypertension-in-critical-patients-with-non-hepatic-hyperammonemia
#6
Alexandre Sanches Larangeira, Marcos Toshiyuki Tanita, Marcos Antonio Dias, Olavo Franco Ferreira Filho, Vinicius Daher Alvares Delfino, Lucienne Tibery Queiroz Cardoso, Cintia Magalhães Carvalho Grion
Hyperammonemia in adults is generally associated with cerebral edema, decreased cerebral metabolism, and increased cerebral blood flow. The aim of this study was to evaluate the association between non-hepatic hyperammonemia and intracranial hypertension assessed by Doppler flowmetry and measurement of the optic nerve sheath. A prospective cohort study in critically ill patients hospitalized in intensive care units of a University Hospital between March 2015 and February 2016. Clinical data and severity scores were collected and the Glasgow coma scale was recorded...
May 3, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29718124/gut-dysbiosis-associated-with-hepatitis-c-virus-infection
#7
Takako Inoue, Jiro Nakayama, Kei Moriya, Hideto Kawaratani, Rie Momoda, Kiyoaki Ito, Etsuko Iio, Shunsuke Nojiri, Kei Fujiwara, Masashi Yoneda, Hitoshi Yoshiji, Yasuhito Tanaka
Background: Little is known about the effect of hepatitis C virus (HCV) infection on gut microbiota and the relationship between alteration of gut microbiota and chronic hepatitis C (CHC) progression. We performed a comparative study of gut microbiota composition between CHC patients and healthy individuals. Methods: Fecal samples from 166 CHC patients were compared with those from 23 healthy individuals; the gut microbiota community was analyzed using 16S ribosomal RNA gene sequencing...
May 1, 2018: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29695242/elucidation-of-the-anti-hyperammonemic-mechanism-of-lactobacillus-amylovorus-jbd401-by-comparative-genomic-analysis
#8
Parul Singh, Hea-Jong Chung, In-Ah Lee, Roshan D'Souza, Hyeon-Jin Kim, Seong-Tshool Hong
BACKGROUND: Recent experimental evidence showed that lactobacilli could be used as potential therapeutic agents for hyperammonemia. However, lack of understanding on how lactobacilli reduce blood ammonia levels limits application of lactobacilli to treat hyperammonemia. RESULTS: We report the finished and annotated genome sequence of L. amylovorus JBD401 (GenBank accession no. CP012389). L. amylovorus JBD401 reducing blood ammonia levels dramatically was identified by high-throughput screening of several thousand probiotic strains both within and across Lactobacillus species in vitro...
April 25, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29685040/hepatic-encephalopathy-secondary-to-a-splenorenal-shunt-that-manifested-a-long-time-after-a-liver-transplantation
#9
Paula Tomás Pujante, Andrés Francisco Jiménez Sánchez, Elena Iglesias Jorquera, José Antonio Pons Miñano
Splenorenal shunts are a rare cause of hyperammonemia and hepatic encephalopathy in the absence of cirrhosis. We report the case of a woman, who presented hepatic encephalopathy, with a normal functioning graft, after 14 years of liver transplantation, confirmed by liver biopsy.
April 24, 2018: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/29679984/long-term-continuous-n-carbamylglutamate-treatment-in-frequently-decompensated-propionic-acidemia-a-case-report
#10
Albina Tummolo, Livio Melpignano, Antonella Carella, Anna Maria Di Mauro, Elvira Piccinno, Marcella Vendemiale, Federica Ortolani, Stefania Fedele, Maristella Masciopinto, Francesco Papadia
BACKGROUND: Propionic acidemia is a rare autosomal recessive inherited metabolic disorder that can inhibit the synthesis of N-acetylglutamate, the obligatory activator in urea synthesis, leading to hyperammonemia. N-carbamylglutamate ameliorates hyperammonemia in decompensated propionic acidemia. The effects of long-term continuous N-acetylglutamate administration in such patients are unknown. We report our clinical experience with continuous administration of N-acetylglutamate for 6 years in a patient with propionic acidemia frequently presenting with hyperammonemia...
April 22, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29664506/continuous-venovenous-hemofiltration-in-neonates-with-hyperammonemia-a-case-series
#11
Felipe Cavagnaro Santa María, Jorge Roque Espinosa, Pamela Guerra Hernández
INTRODUCTION: Neonatal hyperammonemia secondary due to inborn errors of metabolism is a rare condition with a high rate of neurological sequelae and mortality. Initial medical management is often insufficient to stop the progressive increase of ammonia, with the consequent deterioration of the patient. For this reason, depurative techniques have been implemented, including peritoneal dialysis, intermittent hemodialysis and continuous renal replacement therapy (CRRT). OBJECTIVE: To describe our experience with continuous extracorporeal dialysis in severely ill neonates with hyperammonemia...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29652753/hybrid-extracorporeal-therapies-as-a-bridge-to-pediatric-liver-transplantation
#12
Ayse Akcan Arikan, Poyyapakkam Srivaths, Ryan W Himes, Naile Tufan Pekkucuksen, Fong Lam, Trung Nguyen, Tamir Miloh, Michael Braun, John Goss, Moreshwar S Desai
OBJECTIVES: Standard intensive care treatment is inadequate to keep children with liver failure alive without catastrophic complications to ensure successful transplant, as accumulation of endogenous protein-bound toxins often lead to hepatic encephalopathy, hepatorenal syndrome, cardiovascular instability, and multiple organ failure. Given paucity of proven treatment modalities for liver failure, blood purification using different extracorporeal treatments as a bridge to transplantation is used, but studies evaluating the safety and efficacy of combination of these therapies, especially in pediatric liver failure, are lacking...
April 12, 2018: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/29651749/medium-chain-triglycerides-supplement-therapy-with-a-low-carbohydrate-formula-can-supply-energy-and-enhance-ammonia-detoxification-in-the-hepatocytes-of-patients-with-adult-onset-type-ii-citrullinemia
#13
Kiyoshi Hayasaka, Chikahiko Numakura, Mitsunori Yamakawa, Tetsuo Mitsui, Hisayoshi Watanabe, Hiroaki Haga, Masahide Yazaki, Hiromasa Ohira, Yasuo Ochiai, Toshiyuki Tahara, Tamio Nakahara, Noriyo Yamashiki, Takahiro Nakayama, Takashi Kon, Hiroshi Mitsubuchi, Hiroshi Yoshida
Citrin, encoded by SLC25A13, constitutes the malate-aspartate shuttle, the main NADH-shuttle in the liver. Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD) and adult-onset type II citrullinemia (CTLN2). Citrin deficiency is predicted to impair hepatic glycolysis and de novo lipogenesis, resulting in hepatic energy deficit. Secondary decrease in hepatic argininosuccinate synthetase (ASS1) expression has been considered a cause of hyperammonemia in CTLN2. We previously reported that medium-chain triglyceride (MCT) supplement therapy with a low-carbohydrate formula was effective in CTLN2 to prevent a relapse of hyperammonemic encephalopathy...
April 12, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29650854/-a-case-of-hyperammonemia-induced-by-chemotherapy-with-5-fluorouracil-for-metastatic-colon-cancer
#14
Shinji Tokuyama, Mutsumi Fukunaga, Ken Konishi, Shoko Honda, Ryohei Yukimoto, Aoi Okamoto, Akina Saito, Kazuyuki Okada, Hideo Ota, Shigekazu Yokoyama, Hirofumi Miki, Kenji Kobayashi
Systemic chemotherapy based on 5-fluorouracil(5-FU)is a standard treatment for unresectable or recurrent colon cancers. Here, we report a case of hyperammonemia induced by chemotherapy using 5-FU for metastatic colon cancer. An 84-yearold male patient with past histories of liver cirrhosis related to hepatitis C virus and renal dysfunction underwent an operation for the rectosigmoid colon cancer 8 years ago. Three years after that operation, a local recurrence of the colon cancer was diagnosed, and chemotherapy using sLV5FU2 was initiated...
April 2018: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/29648519/glutamate-dehydrogenase-role-in-regulating-metabolism-and-insulin-release-in-pancreatic-%C3%AE-cells
#15
David F Wilson, Abigail T J Cember, Franz M Matschinsky
Regulation of insulin release and glucose homeostasis by pancreatic β-cells is dependent on the metabolism of glucose by glucokinase (GK) and the influence of that activity on oxidative phosphorylation. Genetic alterations that result in hyperactivity of mitochondrial glutamate dehydrogenase (GDH-1) can cause hypoglycemia-hyperammonemia following high protein meals, but the role of GDH-1 remains poorly understood. GDH-1 activity is strongly inhibited by GTP, to near zero in the absence of ADP, and cooperatively activated (n=2...
April 12, 2018: Journal of Applied Physiology
https://www.readbyqxmd.com/read/29628453/multiple-acquired-portosystemic-shunts-secondary-to-primary-hypoplasia-of-the-portal-vein-in-a-cat
#16
Satoko Sugimoto, Shingo Maeda, Masaya Tsuboi, Kohei Saeki, James K Chambers, Tomohiro Yonezawa, Kenjiro Fukushima, Reina Fujiwara, Kazuyuki Uchida, Hajime Tsujimoto, Naoaki Matsuki, Koichi Ohno
A 6-year 5-month-old spayed female Scottish Fold cat presented with a one-month history of gait abnormalities, increased salivation, and decreased activity. A blood test showed hyperammonemia and increased serum bile acids. Imaging tests revealed multiple shunt vessels indicating acquired portosystemic shunt. Histopathologic analysis of liver biopsy showed features consistent with liver hypoperfusion, such as a barely recognizable portal vein, increased numbers of small arterioles, and diffuse vacuolar degeneration of hepatocytes...
April 9, 2018: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/29624817/fatal-hyperammonemia-associated-with-disseminated-serratia-marcescens-infection-in-a-pediatric-liver-transplant-recipient
#17
Stephen Mouat, Jonathan Bishop, Emma Glamuzina, Simon Chin, Emma J Best, Helen M Evans
Hyperammonemia is a rare and important complication post-liver transplantation. We review a case of a 5-month-old boy with biliary atresia who received a split liver transplant following a variceal bleed. The transplant was complicated by recurrent portal vein thrombosis. Colonized with Serratia marcescens pretransplant, he developed disseminated infection associated with very high levels of ammonia that led to his death. It is important to be aware of serum ammonia levels in patients with portal vein thrombosis, particularly in the setting of gastrointestinal bleeding and sepsis...
April 6, 2018: Pediatric Transplantation
https://www.readbyqxmd.com/read/29623395/variable-x-chromosome-inactivation-and-enlargement-of-pericentral-glutamine-synthetase-zones-in-the-liver-of-heterozygous-females-with-otc-deficiency
#18
Dita Musalkova, Eva Sticova, Martin Reboun, Jitka Sokolova, Jakub Krijt, Jitka Honzikova, Jiri Gurka, Magdalena Neroldova, Tomas Honzik, Jiri Zeman, Milan Jirsa, Lenka Dvorakova, Martin Hrebicek
Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder that causes recurrent and life-threatening episodes of hyperammonemia. The clinical picture in heterozygous females is highly diverse and derives from the genotype and the degree of inactivation of the mutated X chromosome in hepatocytes. Here, we describe molecular genetic, biochemical, and histopathological findings in the livers explanted from two female patients with late-onset OTC deficiency. Analysis of X-inactivation ratios by DNA methylation-based assays showed remarkable intra-organ variation ranging from 46:54 to 82:18 (average 70:30, n = 37), in favor of the active X chromosome carrying the mutation c...
April 6, 2018: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/29623158/undiagnosed-partial-ornithine-transcarbamylase-deficiency-presenting-postoperatively-as-agitated-delirium
#19
E D Goldstein, R Cannistraro, P S Atwal, J F Meschia
Partial ornithine transcarbamylase deficiency (pOTCD), an enzymatic defect within the urea cycle, is an increasingly recognized etiology for hyperammonemia of unclear source following a stressor within female adults. Here we present a case of newly diagnosed pOTCD following a systemic stressor and prolonged hospitalization course. From a neurological perspective, prompt recognition provided the patient with a swift and near complete recovery. We briefly review the pertinent literature pertaining to this genetically based condition including historical context and current therapeutic approaches...
April 2018: Neurohospitalist
https://www.readbyqxmd.com/read/29601930/liposome-supported-peritoneal-dialysis-in-the-treatment-of-severe-hyperammonemia-an-investigation-on-potential-interactions
#20
Giovanna Giacalone, Simon Matoori, Valentina Agostoni, Vincent Forster, Meriam Kabbaj, Sarah Eggenschwiler, Martin Lussi, Andrea De Gottardi, Nicola Zamboni, Jean-Christophe Leroux
Peritoneal dialysis (PD) performed with transmembrane pH-gradient liposomes was reported to efficiently remove ammonia from the body, representing a promising alternative to current standard-of-care for patients with severe hepatic encephalopathy. In this study, we further characterized the properties of liposome-supported peritoneal dialysis (LSPD) by 1) assessing its in-use stability in the presence of ascitic fluids from liver-disease patients; 2) investigating its interactions with drugs that are commonly administered to acute-on-chronic liver failure patients; and 3) analyzing the in vivo extraction profile of LSPD...
March 27, 2018: Journal of Controlled Release: Official Journal of the Controlled Release Society
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