4,274 results match your criteria Hyperammonemia


Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations.

J Pediatr Endocrinol Metab 2020 May 24. Epub 2020 May 24.

Hacettepe University İhsan Doğramacı Children's Hospital, Ankara, Turkey.

Objectives Urea cycle disorders (UCDs) are rare hereditary diseases. This study was conducted to help identify the characteristics of UCDs in Turkey. Methods The primary outcome was to determine patient characteristics. Read More

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http://dx.doi.org/10.1515/jpem-2019-0413DOI Listing

Late-onset argininosuccinic aciduria associated with hyperammonemia triggered by influenza infection in an adolescent: A case report.

Mol Genet Metab Rep 2020 Sep 15;24:100605. Epub 2020 May 15.

Department of Pediatrics, Gunma University Graduate School of Medicine, Japan.

Hyperammonemia is a typical symptom of urea cycle disorders. While early-onset argininosuccinic aciduria (ASA) can often be detected by hyperammonemia, patients with late-onset ASA predominantly present with psychomotor retardation and mental disorders. However, in late-onset ASA that develops during early childhood, hyperammonemia can sometimes be caused by acute infections, stress, and reduced dietary intake. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2020.100605DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7232106PMC
September 2020

Successful Management of Noncirrhotic Hyperammonemia Syndrome after Kidney Transplantation from Putative Ureaplasma Infection.

Transpl Infect Dis 2020 May 19:e13332. Epub 2020 May 19.

Hartford Hospital Transplant Program, Hartford, CT, USA.

Introduction: Noncirrhotic hyperammonemia (NCH) is a rare but often fatal complication of solid organ transplantation. We present a case wherein an infectious cause of NCH was suspected following kidney transplantation (KT) and the patient was promptly started on empirical antibiotic treatment which proved to be lifesaving.

Case Report: A 56-year-old Chinese woman with a past medical history of end-stage renal disease secondary to ischemic nephropathy and cerebrovascular accident received a kidney from a 52-year-old brain-dead donor with a Kidney Donor Profile Index score of 70%. Read More

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http://dx.doi.org/10.1111/tid.13332DOI Listing

The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification.

Mol Genet Metab Rep 2020 Jun 8;23:100598. Epub 2020 May 8.

Department of Genetics and Genome Sciences, CWRU, Cleveland, OH, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218070PMC

Hyperammonemia by Ureaplasma urealyticum Pneumonia after Lung Transplantation.

Respir Med Case Rep 2020 6;30:101080. Epub 2020 May 6.

Department of Intensive Care Medicine, University Medical Center Hamburg-Eppendorf, Martinistr.52, D-20246, Hamburg, Germany.

Ureaplasma urealyticum is a commensal of the female genital tract and can be detected as a pathogen in urethritis and vaginitis. Its importance as a respiratory pathogen beyond the field of neonatology remains controversial. We report a case of Ureaplasma-pneumonia in a recently lung-transplanted patient, with hyperammonemic syndrome. Read More

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http://dx.doi.org/10.1016/j.rmcr.2020.101080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218208PMC

Management of 35 critically ill hyperammonemic neonates: Role of early administration of metabolite scavengers and continuous hemodialysis.

Arch Pediatr 2020 May 14. Epub 2020 May 14.

Pediatric Intensive Care Unit, Necker Enfants Malades University Hospital, AP-HP, 75015 Paris, France.

Neurological involvement is frequent in inherited metabolic disease of the intoxication type. Hyperammonemic coma related to these diseases may cause severe neurological sequelae. Early optimal treatment is mandatory combining metabolite scavengers (MS) and sometimes continuous veno-venous hemodialysis (CVVHD). Read More

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http://dx.doi.org/10.1016/j.arcped.2020.05.002DOI Listing

Hyperammonemia syndrome due to Ureaplasma urealyticum in a kidney transplant recipient: a case of disseminated disease from a fluoroquinolone-resistant isolate.

Transpl Infect Dis 2020 May 16:e13328. Epub 2020 May 16.

Division of Infectious Diseases, The Warren Alpert Medical School of Brown University, Providence, RI, United States.

Ureaplasma species (spp.) are common colonizers of the urogenital tract but may cause systemic infection in immunocompromised patients. They release significant amounts of ammonia via urea hydrolysis and have been recently implicated in the pathogenesis of hyperammonemia syndrome after organ transplantation. Read More

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http://dx.doi.org/10.1111/tid.13328DOI Listing

An Interesting Case of Congenital Intrahepatic Porto-hepatic Shunt as a Cause of Unexplained Encephalopathy.

Cureus 2020 Apr 11;12(4):e7639. Epub 2020 Apr 11.

Internal Medicine, St. Vincent's Medical Center, Bridgeport, USA.

Congenital portosystemic shunts can be divided into two types: intrahepatic shunts in which there is an abnormal connection between the branches of the portal vein and either the inferior vena cava or the hepatic veins and less commonly the extrahepatic type in which the portal system is connected to one of the branches of the mesenteric veins. Here we describe a 73-year-old woman who was admitted to the hospital with clinical evidence of encephalopathy and was found to have hyperammonemia. Abdominal computed tomography angiography was performed and revealed a dilated portal vein measuring up to 1. Read More

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http://dx.doi.org/10.7759/cureus.7639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216313PMC

Recent advances in understanding and managing hepatic encephalopathy in chronic liver disease.

F1000Res 2020 29;9. Epub 2020 Apr 29.

Institute for Liver and Digestive Health, University College London, Royal Free Campus, Rowland Hill Street, London, NW3 2PF, UK.

Hepatic encephalopathy (HE) is a common, severe complication of advanced chronic liver disease (CLD) and has a devastating impact on the patient's quality of life and prognosis. The neurotoxin ammonia and the presence of systemic and neurological inflammation are considered the key drivers of this neuropsychiatric syndrome. Treatment options available in routine clinical practice are limited, and the development of novel therapies is hampered owing to the complexity and heterogeneity of HE. Read More

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http://dx.doi.org/10.12688/f1000research.22183.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7194462PMC

Continuous renal replacement therapy and its impact on hyperammonaemia in acute liver failure.

Crit Care Resusc 2020 Jun;22(2):158-165

Department of Intensive Care, Austin Health, Melbourne, VIC, Australia.

Objective: Hyperammonaemia contributes to complications in acute liver failure (ALF) and may be treated with continuous renal replacement therapy (CRRT), but current practice is poorly understood.

Design: We retrospectively analysed data for baseline characteristics, ammonia concentration, CRRT use, and outcomes in a cohort of Australian and New Zealand patients with ALF.

Setting: All liver transplant ICUs across Australia and New Zealand. Read More

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Mitochondrial carbonic anhydrase VA deficiency in three Indian infants manifesting early metabolic crisis.

Brain Dev 2020 May 4. Epub 2020 May 4.

Division of Neonatology, Rainbow Children's Hospital, Hyderabad, India.

Background: Hyperammonemia and hyperlactatemia in neonates and young children with non-specific biochemical markers poses a diagnostic challenge. An accurate diagnosis is essential for effective management.

Case Reports: We present three infants from unrelated families, one with infantile and two with neonatal hyperammonemic encephalopathy, hypoglycaemia, and hyperlactatemia. Read More

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http://dx.doi.org/10.1016/j.braindev.2020.04.007DOI Listing

Perioperative management of children with urea cycle disorders.

Paediatr Anaesth 2020 May 6. Epub 2020 May 6.

Department of Pediatric Anesthesiology, University Hospital, 12 de Octubre, Madrid, Spain.

Background: Urea cycle disorders are congenital metabolism errors that affect ammonia elimination. Clinical signs and prognosis are strongly influenced by peak ammonia levels. Numerous triggers associated with metabolic decompensation have been described with many of them, including fasting or stress, being related to the perioperative period. Read More

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http://dx.doi.org/10.1111/pan.13905DOI Listing

Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature.

Case Rep Genet 2020 25;2020:7024735. Epub 2020 Apr 25.

Department of Neurology, George Washington University School of Medicine and Health Sciences, Children's National Medical Center, Washington, DC, USA.

While the urea cycle disorders (UCDs) classically present in the neonatal stage, they have become increasingly recognized as a rare cause of unexplained hyperammonemic encephalopathy in adults. Many metabolic triggers for late-onset UCDs have been described in the literature including excessive protein intake. In this case series, ten such documented cases are reviewed with analysis of patient demographic, protein load, treatment course, and patient outcome. Read More

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http://dx.doi.org/10.1155/2020/7024735DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7197010PMC

Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency.

Mol Ther 2020 Apr 17. Epub 2020 Apr 17.

Molecular Biology Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA; Department of Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA; Molecular and Medical Pharmacology, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA; Department of Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA; Intellectual and Developmental Disabilities Research Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA; Semel Institute for Neuroscience, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA. Electronic address:

The urea cycle enzyme carbamoyl phosphate synthetase 1 (CPS1) catalyzes the initial step of the urea cycle; bi-allelic mutations typically present with hyperammonemia, vomiting, ataxia, lethargy progressing into coma, and death due to brain edema if ineffectively treated. The enzyme deficiency is particularly difficult to treat; early recognition is essential to minimize injury to the brain. Even under optimal conditions, therapeutic interventions are of limited scope and efficacy, with most patients developing long-term neurologic sequelae. Read More

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http://dx.doi.org/10.1016/j.ymthe.2020.04.011DOI Listing

A Mysterious Case of Recurrent Acute Hyperammonemic Encephalopathy.

Cureus 2020 Mar 31;12(3):e7484. Epub 2020 Mar 31.

Internal Medicine, Rochester General Hospital, Rochester, USA.

Ammonia is a well-recognized neurotoxin. Awareness about hyperammonemia, in the absence of liver cirrhosis, may help in lifesaving, prompt diagnosis, and treatment. We present a case of a 53-year-old male who presented to the emergency department (ED) with altered mental status (AMS). Read More

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http://dx.doi.org/10.7759/cureus.7484DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7188447PMC

Diseases Caused by Mutations in Mitochondrial Carrier Genes : A Review.

Biomolecules 2020 Apr 23;10(4). Epub 2020 Apr 23.

Department of Biosciences, Biotechnologies and Biopharmaceutics, Laboratory of Biochemistry and Molecular Biology, University of Bari Aldo Moro, via E. Orabona 4, 70125 Bari, Italy.

In the 1980s, after the mitochondrial DNA (mtDNA) had been sequenced, several diseases resulting from mtDNA mutations emerged. Later, numerous disorders caused by mutations in the nuclear genes encoding mitochondrial proteins were found. A group of these diseases are due to defects of mitochondrial carriers, a family of proteins named solute carrier family 25 (SLC25), that transport a variety of solutes such as the reagents of ATP synthase (ATP, ADP, and phosphate), tricarboxylic acid cycle intermediates, cofactors, amino acids, and carnitine esters of fatty acids. Read More

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http://dx.doi.org/10.3390/biom10040655DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7226361PMC

Serum Levels of Valproic Acid and Carbamazepine Do Not Correlate Well with End-Organ Dysfunction.

Epilepsy Res 2020 Jul 19;163:106343. Epub 2020 Apr 19.

Research Institute of the McGill University Health Centre, Canada.

Background: Serum levels of anticonvulsants are commonly ordered; however, the clinical utility of these laboratory tests is unclear. Clarifying the significance of anticonvulsant drug levels is essential to allow physicians to make appropriate management decisions. We aimed to determine to what extent elevated serum levels of valproic acid (VPA) and carbamazepine (CBZ) correlate with laboratory indications of end-organ dysfunction. Read More

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http://dx.doi.org/10.1016/j.eplepsyres.2020.106343DOI Listing

Chronic hyperammonemia causes a hypoglutamatergic and hyperGABAergic metabolic state associated with neurobehavioral abnormalities in zebrafish larvae.

Exp Neurol 2020 Apr 24:113330. Epub 2020 Apr 24.

Center for Child and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany; Heidelberg Research Center for Molecular Medicine (HRCMM), Heidelberg, Germany. Electronic address:

Chronic hyperammonemia is a common condition affecting individuals with inherited urea cycle disorders resulting in progressive cognitive impairment and behavioral abnormalities. Altered neurotransmission has been proposed as major source of neuronal dysfunction during chronic hyperammonemia, but the molecular pathomechanism has remained incompletely understood. Here we show that chronic exposure to ammonium acetate induces locomotor dysfunction and abnormal feeding behavior in zebrafish larvae, indicative for an impairment of higher brain functions. Read More

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http://dx.doi.org/10.1016/j.expneurol.2020.113330DOI Listing

Diabetes mellitus exacerbates citrin deficiency via glucose toxicity.

Diabetes Res Clin Pract 2020 Apr 23;164:108159. Epub 2020 Apr 23.

Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan; Department of Pediatrics, Miyukikai Hospital, Kaminoyama, Japan. Electronic address:

Aims: Citrin is an aspartate/glutamate carrier that composes the malate-aspartate reduced nicotinamide adenine dinucleotide (NADH) shuttle in the liver. Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD), failure to thrive and dyslipidemia (FTTDCD) and adult-onset type II citrullinemia (CTLN2). Hepatic glycolysis is essentially impaired in citrin deficiency and a low-carbohydrate diet was recommended. Read More

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http://dx.doi.org/10.1016/j.diabres.2020.108159DOI Listing

[Acute severe oral poisoning with 1,4-butandiol and ethanol with the development of coma].

Zh Nevrol Psikhiatr Im S S Korsakova 2020 ;120(3):77-81

Dzhanelidze St. Petersburg Research Institute of Emergency Medicine, St. Petersburg, Russia.

A case of acute oral poisoning by 1.4-butanediol, complicated by the development of severe hypoxia in a 34-year-old patient actively engaged in bodybuilding, is presented. The psychoactive substance was used by the patient to increase sexual activity and physical stamina. Read More

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http://dx.doi.org/10.17116/jnevro202012003177DOI Listing
January 2020

[Posterior reversible encephalopathy syndrome and hyperammonemia: two entities causing cerebral edema and status epilepticus in a female patient after lung transplantation].

Anaesthesist 2020 Apr 21. Epub 2020 Apr 21.

Klinik für Anästhesiologie und Intensivmedizin, Universitätsklinikum Freiburg, Hugstetter Straße 55, 79106, Freiburg, Deutschland.

A 58-year-old woman developed rapidly progressive neurological symptoms and finally loss of vigilance 5 weeks following primarily successful lung transplantation. A posterior reversible encephalopathy syndrome (PRES) under treatment with tacrolimus as well as hyperammonemia due to sepsis with Ureaplasma urealyticum could be identified as the causes. Infections with Ureaplasma, bacteria which produce ammonia as a product of metabolism, are increasingly being identified in immunocompromised people by specific PCR (polymerase chain reaction) procedures and should routinely be taken into consideration as the cause of unspecific neurological symptoms. Read More

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http://dx.doi.org/10.1007/s00101-020-00771-0DOI Listing

Hyperammonemia syndrome due to Ureaplasma infection after liver-kidney transplant.

Transpl Infect Dis 2020 Apr 19:e13298. Epub 2020 Apr 19.

Division of Allergy and Infectious Diseases, Department of Medicine, University of Washington, Seattle, Washington, USA.

Hyperammonemia syndrome, with high levels of ammonia and neurologic dysfunction, is a syndrome with historically high mortality that may occur after solid organ transplantation. Recently, this has been associated with infection due to Ureaplasma, mostly following lung transplantation. We describe the first case of hyperammonemia syndrome due to Ureaplasma infection after liver-kidney transplantation. Read More

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http://dx.doi.org/10.1111/tid.13298DOI Listing

Liver resection for a congenital intrahepatic portosystemic shunt in a child with hyperammonemia and hypermanganesemia: a case report.

Surg Case Rep 2020 Apr 17;6(1):73. Epub 2020 Apr 17.

Department of Pediatric Surgery, Osaka City General Hospital, Osaka, Japan.

Background: Congenital portosystemic shunt (CPSS) is a rare malformation that leads to hyperammonemia, hypermanganesemia, and various symptoms. CPSSs are divided into intrahepatic and extrahepatic shunts. In patients with persistent CPSS including an intrahepatic portosystemic shunt (IPSS), early intervention to occlude the shunt reverses the associated complications. Read More

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http://dx.doi.org/10.1186/s40792-020-00838-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7165232PMC

Sarcopenia in chronic liver diseases: a translational overview.

Expert Rev Gastroenterol Hepatol 2020 May 4:1-12. Epub 2020 May 4.

Translational Research Unit, Medica Sur Clinic & Foundation, Mexico City, Mexico.

: Sarcopenia refers to a progressive and generalized muscle mass and strength loss. In liver diseases, it has been related to worse outcomes and high risk of decompensations.: Sarcopenia is caused by a set of cellular processes in the muscle such as denervation, mitochondrial dysfunction, endotoxemia and inflammation; which are manifested through the alteration of several proteolytic pathways such as lysosomal, proteasomal and caspase systems. Read More

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http://dx.doi.org/10.1080/17474124.2020.1757427DOI Listing
May 2020
2.546 Impact Factor

ECMO as a Platform for Rapid Ammonia Removal in a Neonate with Multienzyme Urea Cycle Disorder.

J Extra Corpor Technol 2020 Mar;52(1):58-62

Department of Pediatrics, St. Christopher's Hospital for Children, Philadelphia, Pennsylvania.

Since the initial deployment of neonatal extracorporeal membrane oxygenation (ECMO) for respiratory failure, the use of ECMO in this population has diversified. We present a term female infant with carbamoyl phosphate synthetase 1 and partial N-acetylglutamate synthase deficiencies who developed severe hyperammonemia refractory to medical management requiring venoarterial ECMO-driven continuous veno-venous hemodiafiltration for ammonia detoxification. This case report illustrates a subpopulation where neonatal ECMO may improve survival and neurodevelopmental outcomes. Read More

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http://dx.doi.org/10.1182/JECT-1900032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7138117PMC

Switching from Fatty Acid Oxidation to Glycolysis Improves the Outcome of Acute-On-Chronic Liver Failure.

Adv Sci (Weinh) 2020 Apr 13;7(7):1902996. Epub 2020 Feb 13.

Department of Pharmacy The First Affiliated Hospital of Zhengzhou University Zhengzhou 450052 China.

Acute-on-chronic liver failure (ACLF) has a high mortality rate. Metabolic reprogramming is an important mechanism for cell survival. Herein, the metabolic patterns of ACLF patients are analyzed. Read More

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http://dx.doi.org/10.1002/advs.201902996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141014PMC

Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders.

Mol Genet Metab 2020 Jun 19;130(2):110-117. Epub 2020 Mar 19.

Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France.

Purpose: We aimed to identify prognostic factors for survival and long-term intellectual and developmental outcome in neonatal patients with early-onset urea cycle disorders (UCD) experiencing hyperammonaemic coma.

Methods: We retrospectively analysed ammonia (NH3) and glutamine levels, electroencephalogram and brain images obtained during neonatal coma of UCD patients born between 1995 and 2011 and managed at a single centre and correlated them to survival and intellectual and developmental outcome.

Results: We included 38 neonates suffering from deficiencies of argininosuccinate synthetase (ASSD, N = 12), ornithine transcarbamylase (OTCD, N = 10), carbamoylphosphate synthetase 1 (CPSD, N = 7), argininosuccinate lyase (ASLD, N = 7), N-acetylglutamate synthase (NAGS, N = 1) or arginase (ARGD, N = 1). Read More

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http://dx.doi.org/10.1016/j.ymgme.2020.03.003DOI Listing

Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy.

Nat Rev Nephrol 2020 Apr 8. Epub 2020 Apr 8.

Division of Nephrology, University of Missouri-Kansas City School of Medicine, Children's Mercy, Kansas City, MO, USA.

Hyperammonaemia in children can lead to grave consequences in the form of cerebral oedema, severe neurological impairment and even death. In infants and children, common causes of hyperammonaemia include urea cycle disorders or organic acidaemias. Few studies have assessed the role of extracorporeal therapies in the management of hyperammonaemia in neonates and children. Read More

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http://dx.doi.org/10.1038/s41581-020-0267-8DOI Listing
April 2020
8.542 Impact Factor

Involvement of ammonia metabolism in the improvement of endurance performance by tea catechins in mice.

Sci Rep 2020 Apr 8;10(1):6065. Epub 2020 Apr 8.

Biological Science Research, Kao Corporation, 2606 Akabane, Ichikai-machi, Haga-gun, Tochigi, 321-3497, Japan.

Blood ammonia increases during exercise, and it has been suggested that this increase is both a central and peripheral fatigue factor. Although green tea catechins (GTCs) are known to improve exercise endurance by enhancing lipid metabolism in skeletal muscle, little is known about the relationship between ammonia metabolism and the endurance-improving effect of GTCs. Here, we examined how ammonia affects endurance capacity and how GTCs affect ammonia metabolism in vivo in mice and how GTCs affect mouse skeletal muscle and liver in vitro. Read More

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http://dx.doi.org/10.1038/s41598-020-63139-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7142105PMC

Ornithine Transcarbamylase Deficiency Presenting as Acute Liver Failure in Girls: A Paediatric Case Series.

J Pediatr Gastroenterol Nutr 2020 Apr 3. Epub 2020 Apr 3.

Genetic Metabolic Disorders Service, Sydney Children's Hospital Network.

Ornithine transcarbamylase deficiency (OTCD) is the most common of the urea cycle disorders and follows an X-linked inheritance pattern. The classical form in male infants causes vomiting and lethargy in the neonatal period; if untreated the severe hyperammonaemia can cause acute neurotoxic complications and permanent disability. OTCD may also occur in heterozygote female individuals, though the manifestations are variable. Read More

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http://dx.doi.org/10.1097/MPG.0000000000002716DOI Listing

Nifuroxazide attenuates experimentally-induced hepatic encephalopathy and the associated hyperammonemia and cJNK/caspase-8/TRAIL activation in rats.

Life Sci 2020 Jul 4;252:117610. Epub 2020 Apr 4.

Dep. of Pharmacology and Toxicology, Faculty of Pharmacy, Mansoura University, Mansoura, Egypt. Electronic address:

Hyperammonemia is a serious metabolic disorder associating with hepatic encephalopathy (HE) which occurs secondary to several forms of liver injury ranging from simple acute liver failure (ALF) to its most serious form; cirrhosis. The resent study highlights the possible ameliorative effect of oral nifuroxazide (25 mg/kg) against experimentally induced ALF and the subsequent HE in a well-standardized rat model. ALF and HE were induced in a rat model by I. Read More

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http://dx.doi.org/10.1016/j.lfs.2020.117610DOI Listing

Ammonia and coma - a case report of late onset hemizygous ornithine carbamyltransferase deficiency in 68-year-old female.

BMC Neurol 2020 Apr 6;20(1):118. Epub 2020 Apr 6.

Department of Internal Medicine, University of Tübingen, Tübingen, Germany.

Background: Acute hyperammonemia without signs of common causes in the elderly might be challenging to identify. We report the oldest case known to date of a female patient with late onset ornithine carbamyltransferase deficiency (OTC), which was unmasked after a protein overload due to nutritional supplements. Our case illustrates how environmental factors (protein overload) in previously unknown OTC in the elderly leads to hyperammonemic encephalopathy and highlights that early treatment prevents persisting neurological deficits and should be considered in absence of common causes of hyperammonemic encephalopathy. Read More

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http://dx.doi.org/10.1186/s12883-020-01700-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7132961PMC

CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.

Eur J Hum Genet 2020 Apr 2. Epub 2020 Apr 2.

Division of Metabolism and Research Unit of Metabolic Biochemistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1038/s41431-020-0616-xDOI Listing

Exercise and physical activity in cirrhosis: opportunities or perils.

J Appl Physiol (1985) 2020 Apr 2. Epub 2020 Apr 2.

Inflammation and Immunity, Cleveland Clinic, United States.

Reduced exercise capacity and impaired physical performance are observed in nearly all patients with liver cirrhosis. Physical activity and exercise are physiological anabolic stimuli that can reverse dysregulated protein homeostasis or proteostasis and potentially increase muscle mass and contractile function in healthy subjects. Cirrhosis is a state of anabolic resistance and unlike the beneficial responses to exercise reported in physiological states, there are few systematic studies evaluating the response to exercise in cirrhosis. Read More

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http://dx.doi.org/10.1152/japplphysiol.00798.2019DOI Listing

Rifaximin Alleviates Endotoxemia with Decreased Serum Levels of Soluble CD163 and Mannose Receptor and Partial Modification of Gut Microbiota in Cirrhotic Patients.

Antibiotics (Basel) 2020 Mar 29;9(4). Epub 2020 Mar 29.

Department of gastroenterology, Nara Medical University, Kashihara 634-8522, Japan.

Rifaximin is a poorly absorbable antibiotic against hepatic encephalopathy (HE). This observational study aimed to elucidate the effect of rifaximin on intestinal permeability and gut microbiota in patients with decompensated cirrhosis. Thirty patients with decompensated cirrhosis were assessed by ammonia level, neuropsychological testing, endotoxin activity (EA), and serum proinflammatory cytokines at baseline and after four weeks of rifaximin treatment (1200 mg/day). Read More

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http://dx.doi.org/10.3390/antibiotics9040145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7235723PMC

Non-cirrhotic hyperammonaemia: are we missing the diagnosis?

BMJ Case Rep 2020 Mar 30;13(3). Epub 2020 Mar 30.

Department of Anaesthesiology Intensive Care and Pain Medicine, Tan Tock Seng Hospital, Singapore.

Hepatic encephalopathy secondary to hyperammonaemia is a known complication of chronic liver disease. In contrast, non-cirrhotic hyperammonaemia is a lesser-known entity that should be considered in a patient with acute encephalopathy as part of the diagnostic workup as prompt identification can help to avoid complications such as seizures and cerebral oedema. We present a case of a middle-aged woman who presented electively for a total pancreatectomy-duodenectomy with splenectomy, hepatico-jejunostomy, gastro-jejunostomy and developed encephalopathy on postoperative day 10 due to non-cirrhotic hyperammonaemia. Read More

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http://dx.doi.org/10.1136/bcr-2019-233218DOI Listing

A retrospective review of outcomes in the treatment of hyperammonemia with renal replacement therapy due to inborn errors of metabolism.

Pediatr Nephrol 2020 Mar 30. Epub 2020 Mar 30.

Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan, D5240 Medical Professional Building, 1500 E. Medical Center Dr, Ann Arbor, MI, 48109, USA.

Background: Outcomes for severe hyperammonemia treated with renal replacement therapy (RRT) reported in the literature vary widely. This has created differing recommendations regarding when RRT is beneficial for hyperammonemic patients.

Methods: To evaluate our institution's experience with RRT in pediatric patients with inborn errors of metabolism (IEMs) and potential prognostic indicators of a better or worse outcome, we performed a retrospective chart review of patients who received RRT for hyperammonemia. Read More

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http://dx.doi.org/10.1007/s00467-020-04533-3DOI Listing

Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia.

Case Rep Pediatr 2020 9;2020:4709548. Epub 2020 Mar 9.

Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.

Propionic acidemia (PA) is manifested as an abnormal accumulation of propionic acid and its metabolites, including methylcitrate, 3-hydroxypropionic acid, and propionylglycine, and is caused by a defect of propionyl-CoA carboxylase. PA is complicated by acute life-threatening metabolic crises, which are precipitated by a catabolic state and result in multiple organ failure or even death, if untreated. A neonate with PA recovered from the first metabolic crisis 3 days after birth but developed a second metabolic crisis during the recovery phase. Read More

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http://dx.doi.org/10.1155/2020/4709548DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7085357PMC

Hyperinsulinism hyperammonaemia (HI/HA) syndrome due to GLUD1 mutation: phenotypic variations ranging from late presentation to spontaneous resolution.

J Pediatr Endocrinol Metab 2020 May;33(5):675-679

Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.

Background The hyperinsulinism/hyperammonaemia (HI/HA) syndrome is the second most common cause of hyperinsulinaemic hypoglycaemia, caused by activating mutations in GLUD1. In this article, we report a series of three unrelated patients with HI/HA syndrome who demonstrated variable phenotypes, ranging from delayed presentation to spontaneous resolution of hypoglycaemia, thereby expanding the current knowledge and understanding of GLUD1 mutations. Case presentation This paper is a retrospective analysis of patients with HI/HA syndrome who demonstrated a variable disease course. Read More

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http://dx.doi.org/10.1515/jpem-2019-0416DOI Listing
May 2020
0.711 Impact Factor

[Refractory multiple myeloma with impaired consciousness accompanied by hyperammonemia and leukoencephalopathy-like findings].

Rinsho Ketsueki 2020 ;61(3):234-239

Department of Internal Medicine, Kohsei Chuo General Hospital.

A 81-year-old female was diagnosed with symptomatic multiple myeloma (MM; IgG κ type, D&S: IIB, ISS: 2) in August 2017. Although treatment with lenalidomide and dexamethasone was started, she developed deep venous thrombosis in the lower extremities as a complication; therefore, the treatment was changed to DBd. In February 2018, she required hospitalization due to general weakness and altered consciousness. Read More

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http://dx.doi.org/10.11406/rinketsu.61.234DOI Listing

Valproic Acid-Induced Hyperammonemic Encephalopathy in a Patient with Bipolar Disorder: A Case Report.

Brain Sci 2020 Mar 24;10(3). Epub 2020 Mar 24.

Department of Psychiatry, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei City 231, Taiwan.

Valproic acid (VPA) is widely used to control various seizure disorders and psychiatric disorders. Valproic acid-induced hyperammonemic encephalopathy (VHE) is a rare but dangerous complication of VPA-induced toxicity. For this case report, several risk factors were identified, including young age, polytherapy regimens, VPA overdose, poor liver function, and carnitine deficiency. Read More

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http://dx.doi.org/10.3390/brainsci10030187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7139302PMC

Propionic acidemia: an extremely rare cause of hemophagocytic lymphohistiocytosis in an infant.

Arch Argent Pediatr 2020 04;118(2):e174-e177

University of Health Sciences, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, Pediatric Intensive Care Unit, Istanbul, Turkey.

Hemophagocytic lymphohystiocytosis (HLH) may be primary (inherited/familial) or secondary to infections, malignancies, rheumatologic disorders, immune deficiency syndromes and metabolic diseases. Cases including lysinuric protein intolerance, multiple sulfatase deficiency, galactosemia, Gaucher disease, Pearson syndrome, and galactosialidosis have previously been reported. It is unclear how the metabolites trigger HLH in metabolic diseases. Read More

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http://dx.doi.org/10.5546/aap.2020.eng.e174DOI Listing

The interplay between thyroid and liver: implications for clinical practice.

J Endocrinol Invest 2020 Mar 12. Epub 2020 Mar 12.

Endocrine Unit, Department of Medicine and Surgery, Ospedale Di Circolo, ASST Dei Sette Laghi, University of Insubria, Viale Borri, 57, Varese, Italy.

A complex relationship exists between thyroid and liver in health and disease. Liver plays an essential physiological role in thyroid hormone activation and inactivation, transport, and metabolism. Conversely, thyroid hormones affect activities of hepatocytes and hepatic metabolism. Read More

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http://dx.doi.org/10.1007/s40618-020-01208-6DOI Listing

Improvement of diagnostic yield in carbamoylphosphate synthetase 1 () molecular genetic investigation by RNA sequencing.

JIMD Rep 2020 Mar 9;52(1):28-34. Epub 2020 Jan 9.

Division of Metabolism and Children's Research Center University Children's Hospital Zurich Zurich Switzerland.

Carbamoylphosphate synthetase 1 (CPS1) deficiency is a rare inborn error of metabolism leading often to neonatal onset hyperammonemia with coma and high mortality. The biochemical features of the disease are nonspecific and cannot distinguish this condition from other defects of the urea cycle, namely -acetylglutamate synthase deficiency. Therefore, molecular genetic investigation is required for confirmation of the disease, and nowadays this is done with increasing frequency applying next-generation sequencing (NGS) techniques. Read More

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http://dx.doi.org/10.1002/jmd2.12091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052687PMC

Astrocyte swelling in hepatic encephalopathy: molecular perspective of cytotoxic edema.

Metab Brain Dis 2020 Apr 7;35(4):559-578. Epub 2020 Mar 7.

The Institute of Hepatology London and Foundation for Liver Research, 111 Coldharbour Lane, London, SE5 9NT, UK.

Hepatic encephalopathy (HE) may occur in patients with liver failure. The most critical pathophysiologic mechanism of HE is cerebral edema following systemic hyperammonemia. The dysfunctional liver cannot eliminate circulatory ammonia, so its plasma and brain levels rise sharply. Read More

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http://dx.doi.org/10.1007/s11011-020-00549-8DOI Listing
April 2020
2.638 Impact Factor

Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency.

J Pediatr Endocrinol Metab 2020 Apr;33(4):569-574

Behçet Uz Children Training & Research Hospital, Neonatology Department, Izmir, Turkey.

Pyruvate carboxylase (PC) deficiency is a rare autosomal recessive disease and provides clinics in three essential phenotypes. Type B PC deficiency is characterized by lactic acidosis and hyperammonemia. We report a Turkish patient who was diagnosed with type B PC deficiency. Read More

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http://dx.doi.org/10.1515/jpem-2019-0307DOI Listing

Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase.

Hum Genomics 2020 Mar 6;14(1). Epub 2020 Mar 6.

Department of Cell Physiology and Metabolism, University of Geneva Medical Center, 1206, Geneva, Switzerland.

Background: Gain-of-function mutations in the GLUD1 gene, encoding for glutamate dehydrogenase (GDH), result in the hyperinsulinism/hyperammonemia HI/HA syndrome. HI/HA patients present with harmful hypoglycemia secondary to protein-induced HI and elevated plasma ammonia levels. These symptoms may be accompanied by seizures and mental retardation. Read More

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http://dx.doi.org/10.1186/s40246-020-00262-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060525PMC

Activation of Protein Kinase Cδ Contributes to the Induction of Src/EGF Receptor/ERK Signaling in Ammonia-treated Astrocytes.

J Mol Neurosci 2020 Mar 3. Epub 2020 Mar 3.

Key Laboratory of Cardio-Cerebral-Vascular Drug Research of Liaoning Province, Jinzhou Medical University, No.40, Section 3, Songpo Road, Jinzhou, Liaoning Province, China.

Previously, we showed that Src-mediated EGF receptor transactivation/ERK activation mediates ammonia-induced astrocyte swelling, which represents a major component of brain edema in hyperammonemic disorders. Here, we tested the role of PKC in the induction of this signaling pathway and its involvement in ammonia-mediated cell swelling. We found that incubating astrocytes with bisindolylmaleimide (BIM, an inhibitor of classical and novel PKC isoforms) or rottlerin, a PKCδ-specific inhibitor, attenuated the ammonia-induced phosphorylation of EGFR, while GF109203X had no effect on this pathway. Read More

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http://dx.doi.org/10.1007/s12031-020-01517-8DOI Listing

Extracellular Vesicles from Hyperammonemic Rats Induce Neuroinflammation and Motor Incoordination in Control Rats.

Cells 2020 Feb 28;9(3). Epub 2020 Feb 28.

Laboratory of Neurobiology, Príncipe Felipe Research Center Valencia, 46012 Valencia, Spain.

Minimal hepatic encephalopathy is associated with changes in the peripheral immune system which are transferred to the brain, leading to neuroinflammation and thus to cognitive and motor impairment. Mechanisms by which changes in the immune system induce cerebral alterations remain unclear. Extracellular vesicles (EVs) seem to play a role in this process in certain pathologies. Read More

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http://dx.doi.org/10.3390/cells9030572DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140428PMC
February 2020

5-Fluorouracil-induced hyperammonaemic encephalopathy: A French national survey.

Eur J Cancer 2020 Apr 28;129:32-40. Epub 2020 Feb 28.

Service de Médecine Intensive Réanimation, Assistance Publique des Hôpitaux de Paris, Hôpitaux Universitaires Paris-Centre, Hôpital Cochin, Paris, France.

Background: 5-Fluorouracil (5-FU)-induced hyperammonaemic encephalopathy is a rare but serious 5-FU adverse drug reaction (ADR). Given the growing number of cancers treated with 5-FU and the paucity of data regarding this ADR, we performed a retrospective national survey to better characterise 5-FU-induced hyperammonaemic encephalopathy.

Patients And Methods: Since inception of the French pharmacovigilance database, we identified all patients who experienced 5-FU-induced hyperammonaemic encephalopathy. Read More

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http://dx.doi.org/10.1016/j.ejca.2020.01.019DOI Listing