3,935 results match your criteria Hyperammonemia


Hepatic copper accumulation in a young cat with familial variations in the ATP7B gene.

J Vet Intern Med 2018 Dec 18. Epub 2018 Dec 18.

Department of Veterinary Internal Medicine, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Tokyo, Japan.

A 9-month-old intact crossbred female cat was presented with jaundice, intermittent anorexia and lethargy, increased hepatic enzyme activities, and hyperammonemia. Abdominal ultrasound and computed tomographic examinations determined that the liver had a rounded and irregular margin, and histopathological examination identified excessive accumulation of copper hepatocytes in the liver. Concentrations of both blood and urine copper were higher than in healthy cats. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jvim.15399DOI Listing
December 2018

A Case of Reye Syndrome Caused by Influenza A Virus.

Ochsner J 2018 ;18(4):425-427

The University of Queensland School of Medicine, Ochsner Clinical School, New Orleans, LA.

Background: Reye syndrome is a rare and potentially life-threatening disease characterized by liver failure and hepatic encephalopathy. Multiple possible etiologies have been suggested, but only aspirin (acetylsalicylic acid) has been statistically proven to be a causative factor. We describe a case of Reye syndrome secondary to influenza A virus. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.31486/toj.18.0098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292460PMC
January 2018

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories.

Orphanet J Rare Dis 2018 Dec 6;13(1):219. Epub 2018 Dec 6.

Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, 30 N 1900 E, Salt Lake City, UT, 84132, USA.

Background: The 'classic' organic acidaemias (OAs) (propionic, methylmalonic and isovaleric) typically present in neonates or infants as acute metabolic decompensation with encephalopathy. This is frequently accompanied by severe hyperammonaemia and constitutes a metabolic emergency, as increased ammonia levels and accumulating toxic metabolites are associated with life-threatening neurological complications. Repeated and frequent episodes of hyperammonaemia (alongside metabolic decompensations) can result in impaired growth and intellectual disability, the severity of which increase with longer duration of hyperammonaemia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-018-0963-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282273PMC
December 2018

[Cobalamin deficiency in dogs and cats].

Tierarztl Prax Ausg K Kleintiere Heimtiere 2018 Oct 12;46(5):309-314. Epub 2018 Dec 12.

Cobalamin is a member of the B-group of vitamins and a cofactor for metabolic processes like nucleic acid synthesis, amino acid synthesis, and the citric acid cycle. Mammals are unable to synthesize cobalamin and therefore rely on adequate food intake. Cobalamin absorption is a complex process in the stomach, duodenum, and ileum, requiring a functional exocrine pancreas. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.15654/TPK-180458DOI Listing
October 2018
4 Reads

Clinical and genetic diversity of congenital hyperammonemia.

Rom J Morphol Embryol 2018 ;59(3):945-948

Department of Preclinical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, Romania;

Congenital hyperammonemia (HA) due to inborn errors of metabolism is a rare condition with a high rate of mortality. The main effects occur at the central nervous system (CNS) level, being neurotoxic by alteration of the neurotransmitter function. HA can be triggered by an inappropriate diet, infection or stress, but can also occur without a precise cause. Read More

View Article

Download full-text PDF

Source
January 2018

5-Fluorouracil rechallenge after 5-fluorouracil-induced hyperammonemic encephalopathy.

Anticancer Drugs 2018 Dec 10. Epub 2018 Dec 10.

Medical Oncology Department, Gustave Roussy, Université Paris-Saclay.

For several decades, 5-Fluorouracil (5-FU) has been the backbone of many chemotherapy regimens for various tumor types. Its most common side effects are gastrointestinal disorders, mucositis, myelosuppression, hand-foot syndrome, and rarely cardiac toxicity. More rarely, 5-FU infusion can induce hyperammonemic encephalopathy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/CAD.0000000000000730DOI Listing
December 2018

TLR5 silencing reduced hyperammonaemia-induced liver injury by inhibiting oxidative stress and inflammation responses via inactivating NF-κB and MAPK signals.

Chem Biol Interact 2018 Nov 30;299:102-110. Epub 2018 Nov 30.

Department of Infectious Disease, The First Affiliated Hospital of Zhengzhou University, 450052, China. Electronic address:

Background: Liver injury is a serious threat for human health and life. Toll-like receptor 5 (TLR5) has reported to be a vital mediator in flagellin or tetrachloride (CCl4)-induced liver injury. However, the roles and etiology of TLR5 in hyperammonaemia (HA)-induced liver injury are poor defined. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cbi.2018.11.026DOI Listing
November 2018
1 Read

Unexplained encephalopathy with phenytoin toxicity - hyperammonemia, the underlying cause.

Neurol India 2018 Nov-Dec;66(6):1829-1831

Department of Neurology, King George's Medical University, Lucknow, Uttar Pradesh, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/0028-3886.246257DOI Listing
December 2018

[Detection of CPS1 gene mutation in a neonate with carbamoyl phosphate synthetase I deficiency].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Dec;35(6):848-851

Institute of Pediatric Research, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.

Objective: To explore the genetic basis for a neonate featuring hyperammonemia.

Methods: The patient was examined and tested by tandem mass spectrometry and next generation sequencing (NGS). Suspected mutations were confirmed by Sanger sequencing of the proband and her parents. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.06.017DOI Listing
December 2018
1 Read

Review of diffuse cortical injury on diffusion-weighted imaging in acutely encephalopathic patients with an acronym: "CRUMPLED".

Eur J Radiol Open 2018 9;5:194-201. Epub 2018 Nov 9.

Department of Radiology, Division of Neuroradiology, University of Minnesota Medical Center, Minneapolis, MN, USA.

Purpose: Acute encephalopathic syndromes can present a diagnostic challenge due to the wide range of possible etiologies, which also can have vastly different outcomes. The presence of diffuse cortical injury (DCI) on diffusion-weighted imaging (DWI) can help narrow the differential diagnosis. The aim of this review is to categorize the range of possible etiologies of DCI into a useful acronym, "CRUMPLED". Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejro.2018.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231053PMC
November 2018
5 Reads

[A Case of Recurrent Hyperammonemic Encephalopathy during Adjuvant Chemotherapy(Modified FOLFOX6)for Colorectal Cancer].

Gan To Kagaku Ryoho 2018 Nov;45(11):1665-1668

Dept. of Surgery, Japan Community Health care Organization Tokyo Kamata Medical Center.

A 60-year-old woman was administered mFOLFOX6 therapy as postoperative adjuvant chemotherapy for fStage III a ascending colon cancer. The patient developed a disorder of consciousness(Japan Coma Scale[JCS]III-200)immediately after the completion of the therapy. Blood ammonia levels were high at 319 mg/dL, and a diagnosis of disturbance of consciousness due to hyperammonemia was made. Read More

View Article

Download full-text PDF

Source
November 2018
4 Reads

Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency.

Intern Med 2018 Nov 19. Epub 2018 Nov 19.

Third Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan.

A 52-year-old woman developed vomiting and disturbance of consciousness after consuming raw fish and sushi on a trip. A blood test showed hyperammonemia (310 μg/dL) with a normal liver function. She fell into a deep coma, and her serum ammonia level increased to 684 μg/dL. Read More

View Article

Download full-text PDF

Source
https://www.jstage.jst.go.jp/article/internalmedicine/advpub
Publisher Site
http://dx.doi.org/10.2169/internalmedicine.1851-18DOI Listing
November 2018
18 Reads

Hyperammonemic encephalopathy associated with hereditary hemorrhagic telangiectasia.

Clin Res Hepatol Gastroenterol 2018 Nov 14. Epub 2018 Nov 14.

Assistance publique-hôpitaux de Paris, hôpital Beaujon, service d'hépatologie, Inserm U1149, université Paris Diderot, 92110 Clichy, France.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S22107401183022
Publisher Site
http://dx.doi.org/10.1016/j.clinre.2018.10.011DOI Listing
November 2018
2 Reads

Carglumic Acid Treatment of a Patient with Recurrent Valproic Acid-induced Hyperammonemia: A Rare Case Report.

Cureus 2018 Sep 12;10(9):e3292. Epub 2018 Sep 12.

Medical Student, American University of Integrative Sciences, Bridgewater, BRB.

Valproic acid, first manufactured as an anticonvulsant, is commonly used to treat both neurological and psychiatric conditions. A rare and deadly side effect of this medication is hyperammonemia, presenting as lethargy, confusion, seizure, and, ultimately, coma. In rare circumstances, hyperammonemia can be recurrent and devastating, especially in patients with an underlying N-acetyl glutamate synthase (NAGS) deficiency, as the valproic acid can enhance this enzyme deficiency and inhibit the conversion of ammonia into urea in the liver. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7759/cureus.3292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235635PMC
September 2018
10 Reads

Acute hyperammonemia in children under deferasirox treatment: cutting the Gordian knot.

Clin Toxicol (Phila) 2018 Nov 16:1-2. Epub 2018 Nov 16.

d DEA Paediatric Intensive Care Unit , IRCCS Bambino Gesù Children's Hospital , Rome , Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/15563650.2018.1523425DOI Listing
November 2018

A Very Rare Etiology of Hypotonia and Seizures: Congenital Glutamine Synthetase Deficiency.

Neuropediatrics 2018 Nov 15. Epub 2018 Nov 15.

Division of Pediatric Neurology, Lösante Children's and Adult Hospital, Gölbaşı, Ankara, Turkey.

Mutations in the human gene, which encodes the enzyme glutamine synthetase (GS), may cause congenital glutamine synthetase deficiency. The disease was first described in 2005 and only three patients have been reported to date. We report a fourth patient suffering from congenital GS deficiency who was found to have some distinctive clinical findings. Read More

View Article

Download full-text PDF

Source
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1675637
Publisher Site
http://dx.doi.org/10.1055/s-0038-1675637DOI Listing
November 2018
5 Reads

Label-Free Quantitative Proteomics in a Methylmalonyl-CoA Mutase-Silenced Neuroblastoma Cell Line.

Int J Mol Sci 2018 Nov 13;19(11). Epub 2018 Nov 13.

Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli "Federico II", 80131 Naples, Italy.

Methylmalonic acidemias (MMAs) are inborn errors of metabolism due to the deficient activity of methylmalonyl-CoA mutase (MUT). MUT catalyzes the formation of succinyl-CoA from methylmalonyl-CoA, produced from propionyl-CoA catabolism and derived from odd chain fatty acids β-oxidation, cholesterol, and branched-chain amino acids degradation. Increased methylmalonyl-CoA levels allow for the presymptomatic diagnosis of the disease, even though no approved therapies exist. Read More

View Article

Download full-text PDF

Source
http://www.mdpi.com/1422-0067/19/11/3580
Publisher Site
http://dx.doi.org/10.3390/ijms19113580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275031PMC
November 2018
7 Reads

Neuroprotective Effect of Nortriptyline in Overt Hepatic Encephalopathy Through Attenuation of Mitochondrial Dysfunction.

ASN Neuro 2018 Jan-Dec;10:1759091418810583

1 Department of Anatomy, College of Medicine, Konyang University, Daejeon, South Korea.

Hyperammonemia associated with overt hepatic encephalopathy (OHE) causes excitotoxic neuronal death through activation of the cytochrome C (CytC)-mediated mitochondria-dependent apoptotic pathway. We tested the therapeutic effect of nortriptyline (NT), a mitochondrial permeability transition pore (mPTP) blocker that can possibly inhibit mitochondrial CytC efflux to the cytosol on in vivo and in vitro OHE models. After ensuring the generation of OHE rats, established by bile duct ligation (BDL), they were intraperitoneally administered either 20 mg/kg NT (i. Read More

View Article

Download full-text PDF

Source
http://journals.sagepub.com/doi/10.1177/1759091418810583
Publisher Site
http://dx.doi.org/10.1177/1759091418810583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238202PMC
November 2018
5 Reads

Hyperinsulinism-hyperammonemia Syndrome in an Infant with Seizures.

Balkan J Med Genet 2018 Jun 29;21(1):77-81. Epub 2018 Oct 29.

Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Hyperinsulinism-hyperammonemia syndrome (HI/HA) is the second most common form of persistent hyperinsulinemic hypoglycemia of infancy (PHHI). The main clinical characteristics of HI/HA syndrome are repeated episodes of symptomatic hypoglycemia, but not usually severe. Consequently, children with HI/HA syndrome are frequently not recognized in the first months of life. Read More

View Article

Download full-text PDF

Source
http://content.sciendo.com/view/journals/bjmg/21/1/article-p
Publisher Site
http://dx.doi.org/10.2478/bjmg-2018-0014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231311PMC
June 2018
10 Reads

Acute Presentation and Management of the Encephalopathic Child With an Undiagnosed Inborn Error of Metabolism.

J Emerg Med 2018 Nov 9. Epub 2018 Nov 9.

University of Utah, Salt Lake City, Utah.

Background: Inborn errors of metabolism (IEM) commonly present in infancy and, less commonly, later in life.

Case Report: This case describes an IEM, specifically, ornithine transcarbamylase deficiency, in a previously healthy 7-year-old boy who presented to an emergency department with vomiting for approximately 24 h prior to admission. The child became progressively encephalopathic while in the emergency department, but an ammonia level was not obtained until several hours after admission. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jemermed.2018.09.037DOI Listing
November 2018

Congenital intrahepatic portocaval shunts and hypoglycemia due to secondary hyperinsulinism: a case report and review of the literature.

J Med Case Rep 2018 Nov 12;12(1):336. Epub 2018 Nov 12.

Department of Neonatology and Pediatric Intensive Care, University Hospital Bonn, Bonn, Germany.

Background: Congenital portosystemic shunts present with various associated complications, such as other congenital malformations, hyperammonemia, or hepatopulmonary syndrome. Few cases of associated hypoglycemia have been reported so far and our case, to the best of our knowledge, describes the most severe extent of hypoglycemia.

Case Presentation: We describe the case of a newborn Arab boy with two intrahepatic portosystemic shunts, resulting in severe and persistent hypoglycemia, due to which one of the shunts was closed by interventional radiology whereas the other shunt had already closed spontaneously. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13256-018-1881-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231275PMC
November 2018
2 Reads

Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency.

JIMD Rep 2018 Nov 8. Epub 2018 Nov 8.

Indiana University School of Medicine, Indianapolis, IN, USA.

Ornithine transcarbamylase (OTC) deficiency is well known to cause severe neonatal hyperammonemia in males with absent enzyme activity. In families with large deletions of the X chromosome involving OTC and other contiguous genes, male infants appear to have an even more severe course. Notably, there are no published reports of these males surviving to liver transplant, even in cases where the diagnosis was known or suspected at birth. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2018_145DOI Listing
November 2018
1 Read

Renal replacement therapy in neonates with an inborn error of metabolism.

Authors:
Heeyeon Cho

Korean J Pediatr 2018 Nov 7. Epub 2018 Nov 7.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Hyperammonemia can caused by several different genetic inborn errors of metabolism including urea cycle defects, organic acidemias, fatty acid oxidation defects, and certain disorders of amino acid metabolism. High levels of ammonia are extremely neurotoxic, leading to astrocyte swelling, brain edema, coma, severe disability, and even death. Thus, emergency treatment for hyperammonemia must begin before a precise diagnosis is established. Read More

View Article

Download full-text PDF

Source
http://kjp.or.kr/journal/view.php?doi=10.3345/kjp.2018.07143
Publisher Site
http://dx.doi.org/10.3345/kjp.2018.07143DOI Listing
November 2018
3 Reads

Successful treatment of Ureaplasma-induced hyperammonemia syndrome post-lung transplant.

Transpl Infect Dis 2018 Nov 7:e13022. Epub 2018 Nov 7.

Division of Allergy, Pulmonary, and Critical Care, Department of Internal Medicine, University of Wisconsin Hospital and Clinics, University of Wisconsin School of Medicine-Madison School of Medicine and Public Health, Madison, Wisconsin.

Hyperammonemia, in the absence of significant liver dysfunction, is an uncommon but often fatal occurrence following orthotopic lung transplant. Prior reports have provided evidence to support Ureaplasma species as an etiology for this syndrome. This case report describes an individual post-lung transplant, treated emperically with doxycycline along with other measures to lower ammonia levels, at the time hyperammonemia with encephalopathy was recognized. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/tid.13022
Publisher Site
http://dx.doi.org/10.1111/tid.13022DOI Listing
November 2018
6 Reads

Severe hyperammonaemic encephalopathy resulting from the overlap between hepatic and valproate encephalopathy.

Postgrad Med J 2018 Nov 5. Epub 2018 Nov 5.

Intensive Care Unit, West Cumberland Hospital, Whitehaven, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/postgradmedj-2018-136029DOI Listing
November 2018
1 Read

Progressive resistance training prevents loss of muscle mass and strength in bile duct-ligated rats.

Liver Int 2018 Nov 5. Epub 2018 Nov 5.

Hepato-Neuro Laboratory, CRCHUM, Université de Montréal, Montréal, Québec, Canada.

Background: Loss of muscle mass and strength is common in cirrhosis and increases the risk of hyperammonaemia and hepatic encephalopathy. Resistance training optimizes muscle mass and strength in several chronic diseases. However, the beneficial effects of resistance training in cirrhosis remain to be investigated. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/liv.13997
Publisher Site
http://dx.doi.org/10.1111/liv.13997DOI Listing
November 2018
7 Reads

Laparoscopic ligation of a congenital extrahepatic portosystemic shunt for children with hyperammonemia: a single-institution experience.

Surg Today 2018 Nov 3. Epub 2018 Nov 3.

Department of Pediatric Surgery, Osaka University Graduate School of Medicine, 2-2, Yamadaoka, Suita, Osaka, 565-0871, Japan.

Purpose: A congenital extrahepatic portosystemic shunt (CEPS) associated with hyperammonemia requires occlusion of the shunt vessels. We evaluated the effectiveness and safety of laparoscopic ligation of a CEPS in children with hyperammonemia.

Methods: The subjects of this retrospective study were seven children with hyperammonemia who underwent laparoscopic ligation of a CEPS. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00595-018-1731-yDOI Listing
November 2018

Aloin Inhibits Müller Cells Swelling in a Rat Model of Thioacetamide-Induced Hepatic Retinopathy.

Molecules 2018 Oct 29;23(11). Epub 2018 Oct 29.

College Department of Oral Pathology, School of Dentistry, Chonbuk National University, Jeonju 54896, Korea.

Swelling of retinal Müller cells is implicated in retinal edema and neuronal degeneration. Müller cell swelling is observed in patients with liver failure and is referred to as hepatic retinopathy. In the present study, we evaluated the effects of aloin, an anthraquinone-C-glycoside present in various species, on Müller cell dysfunction in a rat model of thioacetamide (TAA)-induced hepatic retinopathy. Read More

View Article

Download full-text PDF

Source
http://www.mdpi.com/1420-3049/23/11/2806
Publisher Site
http://dx.doi.org/10.3390/molecules23112806DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278412PMC
October 2018
1 Read

Resveratrol Restores Neuronal Tight Junction Proteins Through Correction of Ammonia and Inflammation in CCl-Induced Cirrhotic Mice.

Mol Neurobiol 2018 Oct 30. Epub 2018 Oct 30.

Department of Pathology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, 605006, India.

Systemic inflammation and ammonia (hyperammonemia) act synergistically in the pathogenesis of hepatic encephalopathy (HE), the neurobehavioral sequelae of advanced liver disease. In cirrhotic patients, we have recently observed elevated levels of circulating neuronal tight junction (TJ) protein, zonula occludens 1 (ZO-1), reflective of a change to blood-brain barrier (BBB) integrity. Moreover, ZO-1 levels positively correlated with hyperammonemia, although any potential relationship remains unclear. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s12035-018-1389-x
Publisher Site
http://dx.doi.org/10.1007/s12035-018-1389-xDOI Listing
October 2018
3 Reads

Glutamate dehydrogenase: Structure of a hyperinsulinism mutant, corrections to the atomic model, and insights into a regulatory site.

Proteins 2018 Oct 27. Epub 2018 Oct 27.

Department of Biochemistry and Molecular Biology, University of Texas Medical Branch, Galveston, Texas.

Mammalian glutamate dehydrogenase (GDH) has complex allosteric regulation and the loss of GTP inhibition causes the hyperinsulinism/hyperammonemia syndrome (HHS) where insulin is hypersecreted upon consumption of protein. The archetypical HHS lesion is H454Y and lies in the GTP binding pocket. To better understand the mechanism of HHS, we determined the crystal structure of H454Y. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/prot.25620DOI Listing
October 2018

Valproic acid induced acute liver injury resulting in hepatic encephalopathy- a case report and literature review.

J Community Hosp Intern Med Perspect 2018 15;8(5):311-314. Epub 2018 Oct 15.

Department of Medicine, Wayne State University/Detroit Medical center, Detroit, MI, USA.

Valproic acid (VPA) is a commonly used agent in the management of seizures and psychiatric disorders. Hyperammonemia is a common complication of VPA with 27.8% of patients having elevated levels - that is unrelated to hepatotoxicity and normal transaminases. Read More

View Article

Download full-text PDF

Source
https://www.tandfonline.com/doi/full/10.1080/20009666.2018.1
Publisher Site
http://dx.doi.org/10.1080/20009666.2018.1514933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197012PMC
October 2018
6 Reads

Coagulation Disturbances in Patients with Argininemia.

Acta Haematol 2018 24;140(4):221-225. Epub 2018 Oct 24.

Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.

Background: Argininemia is an autosomal recessive urea cycle disorder (UCD). Unlike other UCD, hyperammonemia is rarely seen. Patients usually present in childhood with neurological symptoms. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000493678DOI Listing
October 2018
1 Read

A novel intronic homozygous mutation in the AMT gene of a patient with nonketotic hyperglycinemia and hyperammonemia.

Metab Brain Dis 2018 Oct 22. Epub 2018 Oct 22.

Department of Neurology, Rutgers University-New Jersey Medical School, 90 Bergen Street, DOC 8100, Newark, NJ, 07103, USA.

Nonketotic Hyperglycinemia is an autosomal recessive disorder characterized by defects in the mitochondrial glycine cleavage system. Most patients present soon after birth with seizures and hypotonia, and infants that survive the newborn period often have profound intellectual disability and intractable seizures. Here we present a case report of a 4-year-old girl with NKH as well as hyperammonemia, an uncommon finding in NKH. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s11011-018-0317-0
Publisher Site
http://dx.doi.org/10.1007/s11011-018-0317-0DOI Listing
October 2018
7 Reads

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.

Sci Rep 2018 Oct 18;8(1):15436. Epub 2018 Oct 18.

Children's Research Institute, Children's National Medical Center, Washington, DC, 20010, USA.

N-acetylglutamate synthase deficiency (NAGSD, MIM #237310) is an autosomal recessive disorder of the urea cycle that results from absent or decreased production of N-acetylglutamate (NAG) due to either decreased NAGS gene expression or defective NAGS enzyme. NAG is essential for the activity of carbamylphosphate synthetase 1 (CPS1), the first and rate-limiting enzyme of the urea cycle. NAGSD is the only urea cycle disorder that can be treated with a single drug, N-carbamylglutamate (NCG), which can activate CPS1 and completely restore ureagenesis in patients with NAGSD. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-018-33457-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194121PMC
October 2018
1 Read

Extracellular cGMP Reverses Altered Membrane Expression of AMPA Receptors in Hippocampus of Hyperammonemic Rats: Underlying Mechanisms.

Mol Neurobiol 2018 Oct 17. Epub 2018 Oct 17.

Laboratory of Neurobiology, Centro de Investigacion Pincipe Felipe, Valencia, Spain.

Chronic hyperammonemia impairs spatial memory by altering membrane expression of GluA1 and GluA2 subunits of AMPA receptors in hippocampus. Intracerebral administration of extracellular cGMP to hyperammonemic rats restores spatial memory and membrane expression of AMPA receptors. The underlying molecular mechanisms remain unknown and cannot be analyzed in vivo. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12035-018-1387-zDOI Listing
October 2018

Efficacy of l-Ornithine l-Aspartate for the Treatment of Hepatic Encephalopathy and Hyperammonemia in Cirrhosis: Systematic Review and Meta-Analysis of Randomized Controlled Trials.

J Clin Exp Hepatol 2018 Sep 22;8(3):301-313. Epub 2018 May 22.

Liver Intensive Therapy Unit, Institute of Liver Sciences, Division of Inflammation Biology, School of Immunology and Microbial Sciences, Kings College London, United Kingdom.

Background/objectives: l-Ornithine l-Aspartate (LOLA) is a mixture of two endogenous amino acids with the capacity to fix ammonia in the form of urea and/or glutamine. Its' efficacy for the treatment of Hepatic Encephalopathy (HE), a known hyperammonemic disorder, remains the subject of debate. This study quantitatively analyzed the efficacy of LOLA in patients with cirrhosis and HE. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09736883183008
Publisher Site
http://dx.doi.org/10.1016/j.jceh.2018.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175748PMC
September 2018
5 Reads

Hyperammonemia in Hepatic Encephalopathy.

J Clin Exp Hepatol 2018 Sep 20;8(3):272-280. Epub 2018 Jun 20.

Department of Pathology, University of Miami School of Medicine, Miami, FL 33125, United States.

The precise mechanism underlying the neurotoxicity of Hepatic Encephalopathy (HE) is remains unclear. The dominant view has been that gut-derived nitrogenous toxins are not extracted by the diseased liver and thereby enter the brain. Among the various toxins proposed, the case for ammonia is most compelling. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09736883183009
Publisher Site
http://dx.doi.org/10.1016/j.jceh.2018.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175739PMC
September 2018
7 Reads

[Guidelines on the management of hepatic encephalopathy in cirrhosis].

Authors:

Zhonghua Nei Ke Za Zhi 2018 Oct;57(10):705-718

The Chinese Society of Hepatology developed the current guidelines on the management of hepatic encephalopathy (HE) in cirrhosis based on the published evidences and panelists' consensus. The guidelines provided recommendations for the diagnosis and management of hepatic encephalopathy including minimal hepatic encephalopathy (MHE) and overt hepatic encephalopathy (OHE) emphasizing the importance on screening MHE in patients with end-stage liver diseases. The guidelines emphasized that early identification and prompt treatment are essential to improve the prognosis of HE. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.0578-1426.2018.10.004DOI Listing
October 2018
10 Reads

Lesson of the month 1: Sodium valproate-induced encephalopathy.

Authors:
Lara Camilleri

Clin Med (Lond) 2018 Oct;18(5):430-432

Mater Dei Hospital, Tal-Qroqq, Malta.

A 69-year-old man developed reduced consciousness of sudden onset. Examination and parameters were normal, except for a Glasgow Coma Scale (GCS) score of six. Brain imaging and blood tests were also normal, except for high plasma ammonia. Read More

View Article

Download full-text PDF

Source
http://www.clinmed.rcpjournal.org/lookup/doi/10.7861/clinmed
Publisher Site
http://dx.doi.org/10.7861/clinmedicine.18-5-430DOI Listing
October 2018
3 Reads

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

Orphanet J Rare Dis 2018 Oct 1;13(1):174. Epub 2018 Oct 1.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

Background: Urea cycle disorders (UCDs) are inherited metabolic disorders that present with hyperammonemia, and cause significant mortality and morbidity in infants and children. These disorders are not well reported in the Indian population, due to lack of a thorough study of the clinical and molecular profile.

Results: We present data from two major metabolic centres in India, including 123 cases of various UCDs. Read More

View Article

Download full-text PDF

Source
https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
Publisher Site
http://dx.doi.org/10.1186/s13023-018-0908-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167905PMC
October 2018
6 Reads

L-carnitine prevents ammonia-induced cytotoxicity and disturbances in intracellular amino acid levels in human astrocytes.

J Gastroenterol Hepatol 2018 Oct 2. Epub 2018 Oct 2.

Division of Hepatology, Department of Internal Medicine, Iwate Medical University, Morioka, Japan.

Background And Aim: L-carnitine (L-CA) has been used therapeutically to treat hepatic encephalopathy with hyperammonemia, but the mechanism by which L-CA contributes to ammonia detoxification in the brain is still unclear. Thus, the cytotoxicity and changes in intracellular amino acids (AAs) in astrocytes with hyperammonemia following L-CA administration were studied.

Methods: Human astrocytes were treated with ammonium chloride (NH Cl), L-CA or a mixture of NH Cl, and L-CA under defined conditions. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jgh.14497DOI Listing
October 2018
1 Read

Acute pediatric hyperammonemia: current diagnosis and management strategies.

Hepat Med 2018 12;10:105-115. Epub 2018 Sep 12.

Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada,

Acute hyperammonemia may induce a neurologic impairment leading to an acute life-threatening condition. Coma duration, ammonia peak level, and hyperammonemia duration are the main risk factors of hyperammonemia-related neurologic deficits and death. In children, hyperammonemia is mainly caused by severe liver failure and inborn errors of metabolism. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2147/HMER.S140711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140721PMC
September 2018
5 Reads

Adeno-associated viral gene therapy corrects a mouse model of argininosuccinic aciduria.

Mol Genet Metab 2018 Nov 28;125(3):241-250. Epub 2018 Aug 28.

Gene Therapy Program, Department of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address:

Argininosuccinic aciduria (ASA) is the second most common genetic disorder affecting the urea cycle. The disease is caused by deleterious mutations in the gene encoding argininosuccinate lyase (ASL); total loss of ASL activity results in severe neonatal onset of the disease, which is characterized by hyperammonemia within a few days of birth that can rapidly progress to coma and death. The long-term complications of ASA, such as hypertension and neurocognitive deficits, appear to be resistant to the current treatment options of dietary restriction, arginine supplementation, and nitrogen scavenging drugs. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2018.08.013DOI Listing
November 2018
17 Reads

Cell Volume Control in Healthy Brain and Neuropathologies.

Curr Top Membr 2018 27;81:385-455. Epub 2018 Aug 27.

Department of Neuroscience and Experimental Therapeutics, Albany Medical College, Albany, NY, United States; Department of Biophysics and Functional Diagnostics, Siberian State Medical University, Tomsk, Russian Federation.

Regulation of cellular volume is a critical homeostatic process that is intimately linked to ionic and osmotic balance in the brain tissue. Because the brain is encased in the rigid skull and has a very complex cellular architecture, even minute changes in the volume of extracellular and intracellular compartments have a very strong impact on tissue excitability and function. The failure of cell volume control is a major feature of several neuropathologies, such as hyponatremia, stroke, epilepsy, hyperammonemia, and others. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/bs.ctm.2018.07.006DOI Listing
August 2018
1 Read

Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report.

J Med Case Rep 2018 Sep 23;12(1):274. Epub 2018 Sep 23.

Center for Clinical Research Dalarna-Uppsala University, Falun, Sweden.

Background: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a rare inherited urea cycle disorder, can remain undiagnosed for decades and suddenly turn into an acute life-threatening state. Adult presentation of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome has rarely been described, but is potentially underdiagnosed in the emergency room. In the case of acute hyperammonemia, prompt diagnosis is essential to minimize the risk of brain damage and death. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13256-018-1794-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6151189PMC
September 2018
1 Read

Expanding the Boundaries of Combined Renal Replacement Therapy for Non-Renal Indications.

Blood Purif 2018 Sep 18:1-4. Epub 2018 Sep 18.

Over the last decades, there have been major advancements in the field of renal replacement therapy (RRT) with utilization of newer technologies and advent of various modalities. Once exclusively used for treatment of renal failure and its metabolic consequences, the science of RRT has expanded to include non-renal indications such as treatment of fluid overload in patients with refractory heart failure. Hepatic encephalopathy due to sudden rise in serum ammonia level in the setting of acute liver failure represents an underexplored area in which RRT can potentially be helpful. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000493179DOI Listing
September 2018
1 Read

The phenotypic and mutational spectrum of Thai female patients with ornithine transcarbamylase deficiency.

Gene 2018 Dec 14;679:377-381. Epub 2018 Sep 14.

Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok 10330, Thailand.

Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle disorder affecting both males and females. Hemizygous males commonly present with severe hyperammonemic encephalopathy during the neonatal period. Heterozygous females have great phenotypic variability. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2018.09.026DOI Listing
December 2018
1 Read

Optimal Prescriptions of Continuous Renal Replacement Therapy in Neonates with Hyperammonemia.

Blood Purif 2018 Sep 14:1-7. Epub 2018 Sep 14.

Background/aims: The aim of this study was to evaluate patients' outcomes, determine the prescriptions of continuous renal replacement therapy (CRRT) that effectively reduce serum ammonia levels, and analyze the prognostic factors in neonates with hyperammonemia.

Methods: The medical records of 12 Korean neonates with inborn error of metabolism (IEM) who underwent CRRT for hyperammonemia were retrospectively analyzed.

Results: All patients received continuous venovenous hemodiafiltration. Read More

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/492660
Publisher Site
http://dx.doi.org/10.1159/000492660DOI Listing
September 2018
7 Reads

Reversible Valproate-Induced Subacute Encephalopathy Associated With a Variant in the Mitochondrial Genome.

Front Neurol 2018 30;9:728. Epub 2018 Aug 30.

Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.

There are several reported cases of patients developing motor and cognitive neurological impairment under treatment with valproic acid (VPA). We describe a woman who developed a subacute encephalopathy after VPA intake, harboring a mitochondrial DNA variant, previously described as causing VPA sensitivity in one pediatric patient. A 65-year old woman developed a progressive, severe neurological deterioration after a 3 month treatment with valproate sodium, 800 mg daily. Read More

View Article

Download full-text PDF

Source
https://www.frontiersin.org/article/10.3389/fneur.2018.00728
Publisher Site
http://dx.doi.org/10.3389/fneur.2018.00728DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125373PMC
August 2018
5 Reads

Pharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferase.

PLoS One 2018 10;13(9):e0203707. Epub 2018 Sep 10.

University Hospital Heidelberg, Center for Child and Adolescent Medicine, Division for Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.

Hyperammonemia is the common biochemical hallmark of urea cycle disorders, activating neurotoxic pathways. If untreated, affected individuals have a high risk of irreversible brain damage and mortality. Here we show that acute hyperammonemia strongly enhances transamination-dependent formation of osmolytic glutamine and excitatory glutamate, thereby inducing neurotoxicity and death in ammoniotelic zebrafish larvae via synergistically acting overactivation of NMDA receptors and bioenergetic impairment induced by depletion of 2-oxoglutarate. Read More

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0203707PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6130883PMC
September 2018
10 Reads